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dbVar

Database of genomic structural variation

nsv6314411

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:
46;XY;t(2;4)(p23;q27)dn AND multiple conditions
Publication(s):Manickam et al. 2021, Michelson et al. 2011, Redin et al. 2016

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: 133 SVs from 26 studies. See in: genome view

Remapped(Score: Perfect):44,373,713-44,373,713

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314411	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	44,373,713	44,373,713	-
nsv6314411	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	44,374,328	44,374,328	+
nsv6314411	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	110,832,775	110,832,775	+
nsv6314411	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	110,832,999	110,832,999	-
nsv6314411	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	44,600,852	44,600,852	-
nsv6314411	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	44,601,467	44,601,467	+
nsv6314411	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	111,753,931	111,753,931	+
nsv6314411	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	111,754,155	111,754,155	-

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17968625	interchromosomal translocation	Multiple	Multiple	Global developmental delay; Global developmental delay; Rieger anomaly; Rieger anomaly	Likely pathogenic	ClinVar	RCV000258523.1, VCV000268022.1
nssv17968624	interchromosomal translocation	Multiple	Multiple	Global developmental delay; Global developmental delay; Rieger anomaly; Rieger anomaly	Likely pathogenic	ClinVar	RCV000258523.1, VCV000268022.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17968625	Remapped	Perfect	GRCh38.p12	First Pass	NC_000002.12	Chr2	44,373,713	44,373,713	-
nssv17968624	Remapped	Perfect	GRCh38.p12	First Pass	NC_000002.12	Chr2	44,374,328	44,374,328	+
nssv17968625	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	110,832,775	110,832,775	+
nssv17968624	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	110,832,999	110,832,999	-
nssv17968625	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	44,600,852	44,600,852	-
nssv17968624	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	44,601,467	44,601,467	+
nssv17968625	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	111,753,931	111,753,931	+
nssv17968624	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	111,754,155	111,754,155	-

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
nssv17968625	interchromosomal translocation	de novo	Global developmental delay; Global developmental delay; Rieger anomaly; Rieger anomaly	Likely pathogenic	ClinVar	RCV000258523.1, VCV000268022.1
nssv17968624	interchromosomal translocation	de novo	Global developmental delay; Global developmental delay; Rieger anomaly; Rieger anomaly	Likely pathogenic	ClinVar	RCV000258523.1, VCV000268022.1

No genotype data were submitted for this variant

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