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dbVar

Database of genomic structural variation

nsv2781795

Organism: Homo sapiens

Study:nstd133 (Redin et al. 2016)
Variant Type:complex chromosomal rearrangement
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

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: 110 SVs from 18 studies. See in: genome view

Remapped(Score: Perfect):137,249,696-137,249,696

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv2781795	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	137,249,696	137,249,696	+
nsv2781795	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	137,249,696	137,249,696	+
nsv2781795	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	140,515,210	140,515,210	+
nsv2781795	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	140,515,210	140,515,210	+
nsv2781795	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	72,499,360	72,499,360	+
nsv2781795	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	72,567,557	72,567,557	+
nsv2781795	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	137,570,833	137,570,833	+
nsv2781795	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	137,570,833	137,570,833	+
nsv2781795	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	140,836,347	140,836,347	+
nsv2781795	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	140,836,347	140,836,347	+
nsv2781795	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	72,791,701	72,791,701	+
nsv2781795	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	72,859,898	72,859,898	+

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	ClinVar ID	Other Calls in this Sample and Study
nssv13660009	interchromosomal translocation	DGAP183	Sequencing	Split read and paired-end mapping	SCV000320815	nssv13660010, nssv13660011
nssv13660011	copy number loss	DGAP183	Sequencing	Split read and paired-end mapping	SCV000320815	nssv13660009, nssv13660010
nssv13660010	interchromosomal translocation	DGAP183	Sequencing	Split read and paired-end mapping	SCV000320815	nssv13660009, nssv13660011

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv13660009	Remapped	Perfect		GRCh38.p12	First Pass	NC_000006.12	Chr6	137,249,696	137,249,696	+
nssv13660011	Remapped	Perfect	NC_000006.12:g.137 249696delNC_000006 .12:g.140515210del	GRCh38.p12	First Pass	NC_000006.12	Chr6	137,249,696	137,249,696
nssv13660010	Remapped	Perfect		GRCh38.p12	First Pass	NC_000006.12	Chr6	140,515,210	140,515,210	+
nssv13660011	Remapped	Perfect	NC_000006.12:g.137 249696delNC_000006 .12:g.140515210del	GRCh38.p12	First Pass	NC_000006.12	Chr6	140,515,210	140,515,210
nssv13660010	Remapped	Perfect		GRCh38.p12	First Pass	NC_000015.10	Chr15	72,499,360	72,499,360	+
nssv13660009	Remapped	Perfect		GRCh38.p12	First Pass	NC_000015.10	Chr15	72,567,557	72,567,557	+
nssv13660009	Submitted genomic			GRCh37 (hg19)		NC_000006.11	Chr6	137,570,833	137,570,833	+
nssv13660011	Submitted genomic		[NC_000006.11:g.13 7570833del];[NC_00 0006.11:g.14083634 7del]	GRCh37 (hg19)		NC_000006.11	Chr6	137,570,833	137,570,833
nssv13660010	Submitted genomic			GRCh37 (hg19)		NC_000006.11	Chr6	140,836,347	140,836,347	+
nssv13660011	Submitted genomic		[NC_000006.11:g.13 7570833del];[NC_00 0006.11:g.14083634 7del]	GRCh37 (hg19)		NC_000006.11	Chr6	140,836,347	140,836,347
nssv13660010	Submitted genomic			GRCh37 (hg19)		NC_000015.9	Chr15	72,791,701	72,791,701	+
nssv13660009	Submitted genomic			GRCh37 (hg19)		NC_000015.9	Chr15	72,859,898	72,859,898	+

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Sample ID	HGVS	Type	Clinical Interpretation	ClinVar ID	Gender	Other Calls in this Sample and Study
nssv13660009	DGAP183		interchromosomal translocation		SCV000320815	Female	nssv13660010, nssv13660011
nssv13660011	DGAP183	GRCh37: [NC_000006.11:g.137570833del];[NC_000006.11:g.140836347del]	copy number loss		SCV000320815	Female	nssv13660009, nssv13660010
nssv13660010	DGAP183		interchromosomal translocation		SCV000320815	Female	nssv13660009, nssv13660011

No genotype data were submitted for this variant

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