nsv6314357

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:complex chromosomal rearrangement
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:12
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:46;XY;t(1;10;4)(p32.2;q21.1;q23)dn AND multiple conditions
Publication(s):Manickam et al. 2021, Michelson et al. 2011, Moeschler et al. 2014, Redin et al. 2016, Shao et al. 2021

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 110 SVs from 21 studies. See in: genome view

Remapped(Score: Perfect):50,295,791-50,295,791

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314357	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	50,295,791	50,295,791	-
nsv6314357	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	50,295,798	50,295,798	+
nsv6314357	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	101,366,634	101,366,634	+
nsv6314357	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	101,366,641	101,366,641	-
nsv6314357	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	103,816,979	103,816,979	-
nsv6314357	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	103,817,839	103,817,839	+
nsv6314357	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	104,104,543	104,104,543	+
nsv6314357	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	104,107,238	104,107,238	-
nsv6314357	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	104,107,243	104,107,243	+
nsv6314357	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	104,108,613	104,108,613	-
nsv6314357	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	104,113,993	104,113,993	+
nsv6314357	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	104,115,551	104,115,551	+
nsv6314357	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	104,115,578	104,115,578	+
nsv6314357	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	104,824,626	104,824,626	+
nsv6314357	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	104,824,671	104,824,671	-
nsv6314357	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	54,033,420	54,033,420	+
nsv6314357	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	54,033,422	54,033,422	+
nsv6314357	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	55,760,153	55,760,153	-
nsv6314357	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	55,760,153	55,760,153	-
nsv6314357	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	55,760,157	55,760,157	+
nsv6314357	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	55,761,328	55,761,328	+
nsv6314357	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	55,761,340	55,761,340	-
nsv6314357	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	55,764,027	55,764,027	+
nsv6314357	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	55,764,045	55,764,045	+
nsv6314357	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	50,761,463	50,761,463	-
nsv6314357	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	50,761,470	50,761,470	+
nsv6314357	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	102,287,791	102,287,791	+
nsv6314357	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	102,287,798	102,287,798	-
nsv6314357	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	104,738,136	104,738,136	-
nsv6314357	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	104,738,996	104,738,996	+
nsv6314357	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	105,025,700	105,025,700	+
nsv6314357	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	105,028,395	105,028,395	-
nsv6314357	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	105,028,400	105,028,400	+
nsv6314357	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	105,029,770	105,029,770	-
nsv6314357	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	105,035,150	105,035,150	+
nsv6314357	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	105,036,708	105,036,708	+
nsv6314357	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	105,036,735	105,036,735	+
nsv6314357	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	105,745,783	105,745,783	+
nsv6314357	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	105,745,828	105,745,828	-
nsv6314357	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	55,793,180	55,793,180	+
nsv6314357	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	55,793,182	55,793,182	+
nsv6314357	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	57,519,913	57,519,913	-
nsv6314357	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	57,519,913	57,519,913	-
nsv6314357	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	57,519,917	57,519,917	+
nsv6314357	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	57,521,088	57,521,088	+
nsv6314357	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	57,521,100	57,521,100	-
nsv6314357	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	57,523,787	57,523,787	+
nsv6314357	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	57,523,805	57,523,805	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975447	interchromosomal translocation	Multiple	Multiple	Delayed speech and language development; Delayed speech and language development; HYPERTELORISM; Hypertelorism; Hypertelorism; Intellectual Disability; Intellectual disability; Intellectual disability; Kyphoscoliosis; Kyphoscoliosis; Severe global developmental delay; Severe global developmental delay	Uncertain significance	ClinVar	RCV000258600.2, VCV000268034.1
nssv17975449	interchromosomal translocation	Multiple	Multiple	Delayed speech and language development; Delayed speech and language development; HYPERTELORISM; Hypertelorism; Hypertelorism; Intellectual Disability; Intellectual disability; Intellectual disability; Kyphoscoliosis; Kyphoscoliosis; Severe global developmental delay; Severe global developmental delay	Uncertain significance	ClinVar	RCV000258600.2, VCV000268034.1
nssv17975450	interchromosomal translocation	Multiple	Multiple	Delayed speech and language development; Delayed speech and language development; HYPERTELORISM; Hypertelorism; Hypertelorism; Intellectual Disability; Intellectual disability; Intellectual disability; Kyphoscoliosis; Kyphoscoliosis; Severe global developmental delay; Severe global developmental delay	Uncertain significance	ClinVar	RCV000258600.2, VCV000268034.1
nssv17975446	interchromosomal translocation	Multiple	Multiple	Delayed speech and language development; Delayed speech and language development; HYPERTELORISM; Hypertelorism; Hypertelorism; Intellectual Disability; Intellectual disability; Intellectual disability; Kyphoscoliosis; Kyphoscoliosis; Severe global developmental delay; Severe global developmental delay	Uncertain significance	ClinVar	RCV000258600.2, VCV000268034.1
nssv17975451	interchromosomal translocation	Multiple	Multiple	Delayed speech and language development; Delayed speech and language development; HYPERTELORISM; Hypertelorism; Hypertelorism; Intellectual Disability; Intellectual disability; Intellectual disability; Kyphoscoliosis; Kyphoscoliosis; Severe global developmental delay; Severe global developmental delay	Uncertain significance	ClinVar	RCV000258600.2, VCV000268034.1
nssv17975452	interchromosomal translocation	Multiple	Multiple	Delayed speech and language development; Delayed speech and language development; HYPERTELORISM; Hypertelorism; Hypertelorism; Intellectual Disability; Intellectual disability; Intellectual disability; Kyphoscoliosis; Kyphoscoliosis; Severe global developmental delay; Severe global developmental delay	Uncertain significance	ClinVar	RCV000258600.2, VCV000268034.1
nssv17975448	interchromosomal translocation	Multiple	Multiple	Delayed speech and language development; Delayed speech and language development; HYPERTELORISM; Hypertelorism; Hypertelorism; Intellectual Disability; Intellectual disability; Intellectual disability; Kyphoscoliosis; Kyphoscoliosis; Severe global developmental delay; Severe global developmental delay	Uncertain significance	ClinVar	RCV000258600.2, VCV000268034.1
nssv17975453	interchromosomal translocation	Multiple	Multiple	Delayed speech and language development; Delayed speech and language development; HYPERTELORISM; Hypertelorism; Hypertelorism; Intellectual Disability; Intellectual disability; Intellectual disability; Kyphoscoliosis; Kyphoscoliosis; Severe global developmental delay; Severe global developmental delay	Uncertain significance	ClinVar	RCV000258600.2, VCV000268034.1
nssv17975444	intrachromosomal translocation	Multiple	Multiple	Delayed speech and language development; Delayed speech and language development; HYPERTELORISM; Hypertelorism; Hypertelorism; Intellectual Disability; Intellectual disability; Intellectual disability; Kyphoscoliosis; Kyphoscoliosis; Severe global developmental delay; Severe global developmental delay	Uncertain significance	ClinVar	RCV000258600.2, VCV000268034.1
nssv17975455	intrachromosomal translocation	Multiple	Multiple	Delayed speech and language development; Delayed speech and language development; HYPERTELORISM; Hypertelorism; Hypertelorism; Intellectual Disability; Intellectual disability; Intellectual disability; Kyphoscoliosis; Kyphoscoliosis; Severe global developmental delay; Severe global developmental delay	Uncertain significance	ClinVar	RCV000258600.2, VCV000268034.1
nssv17975445	interchromosomal translocation	Multiple	Multiple	Delayed speech and language development; Delayed speech and language development; HYPERTELORISM; Hypertelorism; Hypertelorism; Intellectual Disability; Intellectual disability; Intellectual disability; Kyphoscoliosis; Kyphoscoliosis; Severe global developmental delay; Severe global developmental delay	Uncertain significance	ClinVar	RCV000258600.2, VCV000268034.1
nssv17975454	interchromosomal translocation	Multiple	Multiple	Delayed speech and language development; Delayed speech and language development; HYPERTELORISM; Hypertelorism; Hypertelorism; Intellectual Disability; Intellectual disability; Intellectual disability; Kyphoscoliosis; Kyphoscoliosis; Severe global developmental delay; Severe global developmental delay	Uncertain significance	ClinVar	RCV000258600.2, VCV000268034.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17975447	Remapped	Perfect	GRCh38.p12	First Pass	NC_000001.11	Chr1	50,295,791	50,295,791	-
nssv17975449	Remapped	Perfect	GRCh38.p12	First Pass	NC_000001.11	Chr1	50,295,798	50,295,798	+
nssv17975450	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	101,366,634	101,366,634	+
nssv17975447	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	101,366,641	101,366,641	-
nssv17975446	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	103,816,979	103,816,979	-
nssv17975451	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	103,817,839	103,817,839	+
nssv17975452	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	104,104,543	104,104,543	+
nssv17975448	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	104,107,238	104,107,238	-
nssv17975453	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	104,107,243	104,107,243	+
nssv17975444	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	104,108,613	104,108,613	-
nssv17975455	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	104,113,993	104,113,993	+
nssv17975445	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	104,115,551	104,115,551	+
nssv17975454	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	104,115,578	104,115,578	+
nssv17975455	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	104,824,626	104,824,626	+
nssv17975444	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	104,824,671	104,824,671	-
nssv17975451	Remapped	Perfect	GRCh38.p12	First Pass	NC_000010.11	Chr10	54,033,420	54,033,420	+
nssv17975445	Remapped	Perfect	GRCh38.p12	First Pass	NC_000010.11	Chr10	54,033,422	54,033,422	+
nssv17975452	Remapped	Perfect	GRCh38.p12	First Pass	NC_000010.11	Chr10	55,760,153	55,760,153	-
nssv17975454	Remapped	Perfect	GRCh38.p12	First Pass	NC_000010.11	Chr10	55,760,153	55,760,153	-
nssv17975446	Remapped	Perfect	GRCh38.p12	First Pass	NC_000010.11	Chr10	55,760,157	55,760,157	+
nssv17975448	Remapped	Perfect	GRCh38.p12	First Pass	NC_000010.11	Chr10	55,761,328	55,761,328	+
nssv17975453	Remapped	Perfect	GRCh38.p12	First Pass	NC_000010.11	Chr10	55,761,340	55,761,340	-
nssv17975449	Remapped	Perfect	GRCh38.p12	First Pass	NC_000010.11	Chr10	55,764,027	55,764,027	+
nssv17975450	Remapped	Perfect	GRCh38.p12	First Pass	NC_000010.11	Chr10	55,764,045	55,764,045	+
nssv17975447	Submitted genomic		GRCh37 (hg19)		NC_000001.10	Chr1	50,761,463	50,761,463	-
nssv17975449	Submitted genomic		GRCh37 (hg19)		NC_000001.10	Chr1	50,761,470	50,761,470	+
nssv17975450	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	102,287,791	102,287,791	+
nssv17975447	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	102,287,798	102,287,798	-
nssv17975446	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	104,738,136	104,738,136	-
nssv17975451	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	104,738,996	104,738,996	+
nssv17975452	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	105,025,700	105,025,700	+
nssv17975448	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	105,028,395	105,028,395	-
nssv17975453	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	105,028,400	105,028,400	+
nssv17975444	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	105,029,770	105,029,770	-
nssv17975455	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	105,035,150	105,035,150	+
nssv17975445	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	105,036,708	105,036,708	+
nssv17975454	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	105,036,735	105,036,735	+
nssv17975455	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	105,745,783	105,745,783	+
nssv17975444	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	105,745,828	105,745,828	-
nssv17975451	Submitted genomic		GRCh37 (hg19)		NC_000010.10	Chr10	55,793,180	55,793,180	+
nssv17975445	Submitted genomic		GRCh37 (hg19)		NC_000010.10	Chr10	55,793,182	55,793,182	+
nssv17975452	Submitted genomic		GRCh37 (hg19)		NC_000010.10	Chr10	57,519,913	57,519,913	-
nssv17975454	Submitted genomic		GRCh37 (hg19)		NC_000010.10	Chr10	57,519,913	57,519,913	-
nssv17975446	Submitted genomic		GRCh37 (hg19)		NC_000010.10	Chr10	57,519,917	57,519,917	+
nssv17975448	Submitted genomic		GRCh37 (hg19)		NC_000010.10	Chr10	57,521,088	57,521,088	+
nssv17975453	Submitted genomic		GRCh37 (hg19)		NC_000010.10	Chr10	57,521,100	57,521,100	-
nssv17975449	Submitted genomic		GRCh37 (hg19)		NC_000010.10	Chr10	57,523,787	57,523,787	+
nssv17975450	Submitted genomic		GRCh37 (hg19)		NC_000010.10	Chr10	57,523,805	57,523,805	+

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975447	interchromosomal translocation	de novo	Delayed speech and language development; Delayed speech and language development; HYPERTELORISM; Hypertelorism; Hypertelorism; Intellectual Disability; Intellectual disability; Intellectual disability; Kyphoscoliosis; Kyphoscoliosis; Severe global developmental delay; Severe global developmental delay	Uncertain significance	ClinVar	RCV000258600.2, VCV000268034.1
nssv17975449	interchromosomal translocation	de novo	Delayed speech and language development; Delayed speech and language development; HYPERTELORISM; Hypertelorism; Hypertelorism; Intellectual Disability; Intellectual disability; Intellectual disability; Kyphoscoliosis; Kyphoscoliosis; Severe global developmental delay; Severe global developmental delay	Uncertain significance	ClinVar	RCV000258600.2, VCV000268034.1
nssv17975450	interchromosomal translocation	de novo	Delayed speech and language development; Delayed speech and language development; HYPERTELORISM; Hypertelorism; Hypertelorism; Intellectual Disability; Intellectual disability; Intellectual disability; Kyphoscoliosis; Kyphoscoliosis; Severe global developmental delay; Severe global developmental delay	Uncertain significance	ClinVar	RCV000258600.2, VCV000268034.1
nssv17975446	interchromosomal translocation	de novo	Delayed speech and language development; Delayed speech and language development; HYPERTELORISM; Hypertelorism; Hypertelorism; Intellectual Disability; Intellectual disability; Intellectual disability; Kyphoscoliosis; Kyphoscoliosis; Severe global developmental delay; Severe global developmental delay	Uncertain significance	ClinVar	RCV000258600.2, VCV000268034.1
nssv17975451	interchromosomal translocation	de novo	Delayed speech and language development; Delayed speech and language development; HYPERTELORISM; Hypertelorism; Hypertelorism; Intellectual Disability; Intellectual disability; Intellectual disability; Kyphoscoliosis; Kyphoscoliosis; Severe global developmental delay; Severe global developmental delay	Uncertain significance	ClinVar	RCV000258600.2, VCV000268034.1
nssv17975452	interchromosomal translocation	de novo	Delayed speech and language development; Delayed speech and language development; HYPERTELORISM; Hypertelorism; Hypertelorism; Intellectual Disability; Intellectual disability; Intellectual disability; Kyphoscoliosis; Kyphoscoliosis; Severe global developmental delay; Severe global developmental delay	Uncertain significance	ClinVar	RCV000258600.2, VCV000268034.1
nssv17975448	interchromosomal translocation	de novo	Delayed speech and language development; Delayed speech and language development; HYPERTELORISM; Hypertelorism; Hypertelorism; Intellectual Disability; Intellectual disability; Intellectual disability; Kyphoscoliosis; Kyphoscoliosis; Severe global developmental delay; Severe global developmental delay	Uncertain significance	ClinVar	RCV000258600.2, VCV000268034.1
nssv17975453	interchromosomal translocation	de novo	Delayed speech and language development; Delayed speech and language development; HYPERTELORISM; Hypertelorism; Hypertelorism; Intellectual Disability; Intellectual disability; Intellectual disability; Kyphoscoliosis; Kyphoscoliosis; Severe global developmental delay; Severe global developmental delay	Uncertain significance	ClinVar	RCV000258600.2, VCV000268034.1
nssv17975444	intrachromosomal translocation	de novo	Delayed speech and language development; Delayed speech and language development; HYPERTELORISM; Hypertelorism; Hypertelorism; Intellectual Disability; Intellectual disability; Intellectual disability; Kyphoscoliosis; Kyphoscoliosis; Severe global developmental delay; Severe global developmental delay	Uncertain significance	ClinVar	RCV000258600.2, VCV000268034.1
nssv17975455	intrachromosomal translocation	de novo	Delayed speech and language development; Delayed speech and language development; HYPERTELORISM; Hypertelorism; Hypertelorism; Intellectual Disability; Intellectual disability; Intellectual disability; Kyphoscoliosis; Kyphoscoliosis; Severe global developmental delay; Severe global developmental delay	Uncertain significance	ClinVar	RCV000258600.2, VCV000268034.1
nssv17975445	interchromosomal translocation	de novo	Delayed speech and language development; Delayed speech and language development; HYPERTELORISM; Hypertelorism; Hypertelorism; Intellectual Disability; Intellectual disability; Intellectual disability; Kyphoscoliosis; Kyphoscoliosis; Severe global developmental delay; Severe global developmental delay	Uncertain significance	ClinVar	RCV000258600.2, VCV000268034.1
nssv17975454	interchromosomal translocation	de novo	Delayed speech and language development; Delayed speech and language development; HYPERTELORISM; Hypertelorism; Hypertelorism; Intellectual Disability; Intellectual disability; Intellectual disability; Kyphoscoliosis; Kyphoscoliosis; Severe global developmental delay; Severe global developmental delay	Uncertain significance	ClinVar	RCV000258600.2, VCV000268034.1

dbVar

Database of genomic structural variation

nsv6314357

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

Clinical Assertions

No genotype data were submitted for this variant