nsv6314539

Organism: Homo sapiens

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

Variant Calls:5
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:
46;XX;t(2;11)(p13.1;p15.5)dn AND multiple conditions
Publication(s):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: 79 SVs from 17 studies. See in: genome view

Remapped(Score: Perfect):69,361,132-69,361,132

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314539	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	69,361,132	69,361,132	+
nsv6314539	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	69,361,288	69,361,288	+
nsv6314539	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	1,893,827	1,893,827	+
nsv6314539	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	1,894,613	1,894,613	-
nsv6314539	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	1,915,438	1,915,438	-
nsv6314539	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	1,915,763	1,915,763	+
nsv6314539	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	1,939,497	1,939,497	+
nsv6314539	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	1,940,131	1,940,131	+
nsv6314539	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	1,963,665	1,963,665	+
nsv6314539	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	1,963,789	1,963,789	+
nsv6314539	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	69,588,264	69,588,264	+
nsv6314539	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	69,588,420	69,588,420	+
nsv6314539	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	1,915,057	1,915,057	+
nsv6314539	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	1,915,843	1,915,843	-
nsv6314539	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	1,936,668	1,936,668	-
nsv6314539	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	1,936,993	1,936,993	+
nsv6314539	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	1,960,727	1,960,727	+
nsv6314539	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	1,961,361	1,961,361	+
nsv6314539	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	1,984,895	1,984,895	+
nsv6314539	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	1,985,019	1,985,019	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975437	interchromosomal translocation	Multiple	Multiple	Abnormal renal morphology; Abnormal renal morphology; Pelvic kidney; Pelvic kidney; Severe intrauterine growth retardation; Severe intrauterine growth retardation	Likely pathogenic	ClinVar	RCV000258610.1, VCV000267934.1
nssv17975204	interchromosomal translocation	Multiple	Multiple	Abnormal renal morphology; Abnormal renal morphology; Pelvic kidney; Pelvic kidney; Severe intrauterine growth retardation; Severe intrauterine growth retardation	Likely pathogenic	ClinVar	RCV000258610.1, VCV000267934.1
nssv17975504	intrachromosomal translocation	Multiple	Multiple	Abnormal renal morphology; Abnormal renal morphology; Pelvic kidney; Pelvic kidney; Severe intrauterine growth retardation; Severe intrauterine growth retardation	Likely pathogenic	ClinVar	RCV000258610.1, VCV000267934.1
nssv17975411	intrachromosomal translocation	Multiple	Multiple	Abnormal renal morphology; Abnormal renal morphology; Pelvic kidney; Pelvic kidney; Severe intrauterine growth retardation; Severe intrauterine growth retardation	Likely pathogenic	ClinVar	RCV000258610.1, VCV000267934.1
nssv17975505	intrachromosomal translocation	Multiple	Multiple	Abnormal renal morphology; Abnormal renal morphology; Pelvic kidney; Pelvic kidney; Severe intrauterine growth retardation; Severe intrauterine growth retardation	Likely pathogenic	ClinVar	RCV000258610.1, VCV000267934.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17975437	Remapped	Perfect	GRCh38.p12	First Pass	NC_000002.12	Chr2	69,361,132	69,361,132	+
nssv17975204	Remapped	Perfect	GRCh38.p12	First Pass	NC_000002.12	Chr2	69,361,288	69,361,288	+
nssv17975504	Remapped	Perfect	GRCh38.p12	First Pass	NC_000011.10	Chr11	1,893,827	1,893,827	+
nssv17975411	Remapped	Perfect	GRCh38.p12	First Pass	NC_000011.10	Chr11	1,894,613	1,894,613	-
nssv17975505	Remapped	Perfect	GRCh38.p12	First Pass	NC_000011.10	Chr11	1,915,438	1,915,438	-
nssv17975504	Remapped	Perfect	GRCh38.p12	First Pass	NC_000011.10	Chr11	1,915,763	1,915,763	+
nssv17975505	Remapped	Perfect	GRCh38.p12	First Pass	NC_000011.10	Chr11	1,939,497	1,939,497	+
nssv17975411	Remapped	Perfect	GRCh38.p12	First Pass	NC_000011.10	Chr11	1,940,131	1,940,131	+
nssv17975204	Remapped	Perfect	GRCh38.p12	First Pass	NC_000011.10	Chr11	1,963,665	1,963,665	+
nssv17975437	Remapped	Perfect	GRCh38.p12	First Pass	NC_000011.10	Chr11	1,963,789	1,963,789	+
nssv17975437	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	69,588,264	69,588,264	+
nssv17975204	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	69,588,420	69,588,420	+
nssv17975504	Submitted genomic		GRCh37 (hg19)		NC_000011.9	Chr11	1,915,057	1,915,057	+
nssv17975411	Submitted genomic		GRCh37 (hg19)		NC_000011.9	Chr11	1,915,843	1,915,843	-
nssv17975505	Submitted genomic		GRCh37 (hg19)		NC_000011.9	Chr11	1,936,668	1,936,668	-
nssv17975504	Submitted genomic		GRCh37 (hg19)		NC_000011.9	Chr11	1,936,993	1,936,993	+
nssv17975505	Submitted genomic		GRCh37 (hg19)		NC_000011.9	Chr11	1,960,727	1,960,727	+
nssv17975411	Submitted genomic		GRCh37 (hg19)		NC_000011.9	Chr11	1,961,361	1,961,361	+
nssv17975204	Submitted genomic		GRCh37 (hg19)		NC_000011.9	Chr11	1,984,895	1,984,895	+
nssv17975437	Submitted genomic		GRCh37 (hg19)		NC_000011.9	Chr11	1,985,019	1,985,019	+

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
nssv17975437	interchromosomal translocation	de novo	Abnormal renal morphology; Abnormal renal morphology; Pelvic kidney; Pelvic kidney; Severe intrauterine growth retardation; Severe intrauterine growth retardation	Likely pathogenic	ClinVar	RCV000258610.1, VCV000267934.1
nssv17975204	interchromosomal translocation	de novo	Abnormal renal morphology; Abnormal renal morphology; Pelvic kidney; Pelvic kidney; Severe intrauterine growth retardation; Severe intrauterine growth retardation	Likely pathogenic	ClinVar	RCV000258610.1, VCV000267934.1
nssv17975504	intrachromosomal translocation	de novo	Abnormal renal morphology; Abnormal renal morphology; Pelvic kidney; Pelvic kidney; Severe intrauterine growth retardation; Severe intrauterine growth retardation	Likely pathogenic	ClinVar	RCV000258610.1, VCV000267934.1
nssv17975411	intrachromosomal translocation	de novo	Abnormal renal morphology; Abnormal renal morphology; Pelvic kidney; Pelvic kidney; Severe intrauterine growth retardation; Severe intrauterine growth retardation	Likely pathogenic	ClinVar	RCV000258610.1, VCV000267934.1
nssv17975505	intrachromosomal translocation	de novo	Abnormal renal morphology; Abnormal renal morphology; Pelvic kidney; Pelvic kidney; Severe intrauterine growth retardation; Severe intrauterine growth retardation	Likely pathogenic	ClinVar	RCV000258610.1, VCV000267934.1

dbVar

Database of genomic structural variation

nsv6314539

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