Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv3221394

Organism: Homo sapiens

Study:nstd152 (Chaisson et al. 2019)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38 (hg38)

Variant Calls:9
Validation:Not tested
Clinical Assertions: No
Region Size:26,317

Publication(s):Chaisson et al. 2019

Links to Other Resources

Overlapping Genes

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: 987 SVs from 89 studies. See in: genome view

Submitted genomic32,214,240-32,245,596

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3221394	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000015.10	Chr15	32,216,760 (-2520, +2520)	32,243,076 (-2520, +2520)
nsv3221394	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000015.9	Chr15	32,508,961 (-2520, +2520)	32,535,277 (-2520, +2520)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv14372992	duplication	HG00514	Sequencing	Sequence alignment	3	39,861
nssv14373535	duplication	SAMN00006581	Sequencing	Sequence alignment	2	41,185
nssv14380112	duplication	SAMN00006466	Sequencing	Sequence alignment	2	14,137
nssv14381509	duplication	SAMN00006580	Sequencing	Sequence alignment	2	14,212
nssv14382644	duplication	SAMN00001695	Sequencing	Sequence alignment	2	15,732
nssv14385684	duplication	SAMN00001696	Sequencing	Sequence alignment	2	45,591
nssv14388941	duplication	SAMN00001694	Sequencing	Sequence alignment	2	16,419
nssv14389189	duplication	HG00512	Sequencing	Sequence alignment	2	13,827
nssv14390181	duplication	SAMN00006579	Sequencing	Sequence alignment	3	13,953

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14372992	Submitted genomic		NC_000015.10:g.(32 214240_32219280)_( 32240556_32245596) dup	GRCh38 (hg38)		NC_000015.10	Chr15	32,216,760 (-2520, +2520)	32,243,076 (-2520, +2520)
nssv14373535	Submitted genomic		NC_000015.10:g.(32 214240_32219280)_( 32240556_32245596) dup	GRCh38 (hg38)		NC_000015.10	Chr15	32,216,760 (-2520, +2520)	32,243,076 (-2520, +2520)
nssv14380112	Submitted genomic		NC_000015.10:g.(32 214240_32219280)_( 32240556_32245596) dup	GRCh38 (hg38)		NC_000015.10	Chr15	32,216,760 (-2520, +2520)	32,243,076 (-2520, +2520)
nssv14381509	Submitted genomic		NC_000015.10:g.(32 214240_32219280)_( 32240556_32245596) dup	GRCh38 (hg38)		NC_000015.10	Chr15	32,216,760 (-2520, +2520)	32,243,076 (-2520, +2520)
nssv14382644	Submitted genomic		NC_000015.10:g.(32 214240_32219280)_( 32240556_32245596) dup	GRCh38 (hg38)		NC_000015.10	Chr15	32,216,760 (-2520, +2520)	32,243,076 (-2520, +2520)
nssv14385684	Submitted genomic		NC_000015.10:g.(32 214240_32219280)_( 32240556_32245596) dup	GRCh38 (hg38)		NC_000015.10	Chr15	32,216,760 (-2520, +2520)	32,243,076 (-2520, +2520)
nssv14388941	Submitted genomic		NC_000015.10:g.(32 214240_32219280)_( 32240556_32245596) dup	GRCh38 (hg38)		NC_000015.10	Chr15	32,216,760 (-2520, +2520)	32,243,076 (-2520, +2520)
nssv14389189	Submitted genomic		NC_000015.10:g.(32 214240_32219280)_( 32240556_32245596) dup	GRCh38 (hg38)		NC_000015.10	Chr15	32,216,760 (-2520, +2520)	32,243,076 (-2520, +2520)
nssv14390181	Submitted genomic		NC_000015.10:g.(32 214240_32219280)_( 32240556_32245596) dup	GRCh38 (hg38)		NC_000015.10	Chr15	32,216,760 (-2520, +2520)	32,243,076 (-2520, +2520)
nssv14372992	Remapped	Perfect	NC_000015.9:g.(325 06441_32511481)_(3 2532757_32537797)d up	GRCh37.p13	First Pass	NC_000015.9	Chr15	32,508,961 (-2520, +2520)	32,535,277 (-2520, +2520)
nssv14373535	Remapped	Perfect	NC_000015.9:g.(325 06441_32511481)_(3 2532757_32537797)d up	GRCh37.p13	First Pass	NC_000015.9	Chr15	32,508,961 (-2520, +2520)	32,535,277 (-2520, +2520)
nssv14380112	Remapped	Perfect	NC_000015.9:g.(325 06441_32511481)_(3 2532757_32537797)d up	GRCh37.p13	First Pass	NC_000015.9	Chr15	32,508,961 (-2520, +2520)	32,535,277 (-2520, +2520)
nssv14381509	Remapped	Perfect	NC_000015.9:g.(325 06441_32511481)_(3 2532757_32537797)d up	GRCh37.p13	First Pass	NC_000015.9	Chr15	32,508,961 (-2520, +2520)	32,535,277 (-2520, +2520)
nssv14382644	Remapped	Perfect	NC_000015.9:g.(325 06441_32511481)_(3 2532757_32537797)d up	GRCh37.p13	First Pass	NC_000015.9	Chr15	32,508,961 (-2520, +2520)	32,535,277 (-2520, +2520)
nssv14385684	Remapped	Perfect	NC_000015.9:g.(325 06441_32511481)_(3 2532757_32537797)d up	GRCh37.p13	First Pass	NC_000015.9	Chr15	32,508,961 (-2520, +2520)	32,535,277 (-2520, +2520)
nssv14388941	Remapped	Perfect	NC_000015.9:g.(325 06441_32511481)_(3 2532757_32537797)d up	GRCh37.p13	First Pass	NC_000015.9	Chr15	32,508,961 (-2520, +2520)	32,535,277 (-2520, +2520)
nssv14389189	Remapped	Perfect	NC_000015.9:g.(325 06441_32511481)_(3 2532757_32537797)d up	GRCh37.p13	First Pass	NC_000015.9	Chr15	32,508,961 (-2520, +2520)	32,535,277 (-2520, +2520)
nssv14390181	Remapped	Perfect	NC_000015.9:g.(325 06441_32511481)_(3 2532757_32537797)d up	GRCh37.p13	First Pass	NC_000015.9	Chr15	32,508,961 (-2520, +2520)	32,535,277 (-2520, +2520)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

You are here: NCBI