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dbVar

Database of genomic structural variation

nsv2781805

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: 109 SVs from 23 studies. See in: genome view

Remapped(Score: Perfect):31,226,472-31,226,472

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv2781805	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	31,226,472	31,226,472	+
nsv2781805	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	31,226,484	31,226,484	+
nsv2781805	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	31,226,484	31,226,484	+
nsv2781805	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	31,226,615	31,226,615	+
nsv2781805	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	63,463,318	63,463,318	+
nsv2781805	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	63,463,320	63,463,320	+
nsv2781805	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	31,622,458	31,622,458	+
nsv2781805	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	31,622,470	31,622,470	+
nsv2781805	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	31,622,470	31,622,470	+
nsv2781805	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	31,622,601	31,622,601	+
nsv2781805	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	62,683,198	62,683,198	+
nsv2781805	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	62,683,200	62,683,200	+

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	ClinVar ID	Other Calls in this Sample and Study
nssv13660039	intrachromosomal translocation	DGAP197	Sequencing	Split read and paired-end mapping	SCV000320825	nssv13660037, nssv13660038
nssv13660037	interchromosomal translocation	DGAP197	Sequencing	Split read and paired-end mapping	SCV000320825	nssv13660038, nssv13660039
nssv13660038	interchromosomal translocation	DGAP197	Sequencing	Split read and paired-end mapping	SCV000320825	nssv13660037, nssv13660039

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv13660039	Remapped	Perfect	GRCh38.p12	First Pass	NC_000022.11	Chr22	31,226,472	31,226,472	+
nssv13660037	Remapped	Perfect	GRCh38.p12	First Pass	NC_000022.11	Chr22	31,226,484	31,226,484	+
nssv13660038	Remapped	Perfect	GRCh38.p12	First Pass	NC_000022.11	Chr22	31,226,484	31,226,484	+
nssv13660039	Remapped	Perfect	GRCh38.p12	First Pass	NC_000022.11	Chr22	31,226,615	31,226,615	+
nssv13660038	Remapped	Perfect	GRCh38.p12	First Pass	NC_000023.11	ChrX	63,463,318	63,463,318	+
nssv13660037	Remapped	Perfect	GRCh38.p12	First Pass	NC_000023.11	ChrX	63,463,320	63,463,320	+
nssv13660039	Submitted genomic		GRCh37 (hg19)		NC_000022.10	Chr22	31,622,458	31,622,458	+
nssv13660037	Submitted genomic		GRCh37 (hg19)		NC_000022.10	Chr22	31,622,470	31,622,470	+
nssv13660038	Submitted genomic		GRCh37 (hg19)		NC_000022.10	Chr22	31,622,470	31,622,470	+
nssv13660039	Submitted genomic		GRCh37 (hg19)		NC_000022.10	Chr22	31,622,601	31,622,601	+
nssv13660038	Submitted genomic		GRCh37 (hg19)		NC_000023.10	ChrX	62,683,198	62,683,198	+
nssv13660037	Submitted genomic		GRCh37 (hg19)		NC_000023.10	ChrX	62,683,200	62,683,200	+

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Sample ID	Type	Clinical Interpretation	ClinVar ID	Gender	Other Calls in this Sample and Study
nssv13660039	DGAP197	intrachromosomal translocation		SCV000320825	Female	nssv13660037, nssv13660038
nssv13660037	DGAP197	interchromosomal translocation		SCV000320825	Female	nssv13660038, nssv13660039
nssv13660038	DGAP197	interchromosomal translocation		SCV000320825	Female	nssv13660037, nssv13660039

No genotype data were submitted for this variant

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