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dbVar

Database of genomic structural variation

nsv3229664

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:36,461

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: 545 SVs from 85 studies. See in: genome view

Submitted genomic21,527,735-21,564,853

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3229664	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	21,528,064 (-329, +329)	21,564,524 (-329, +329)
nsv3229664	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	21,539,385 (-329, +329)	21,575,845 (-329, +329)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv14372778	duplication	SAMN00006581	Sequencing	Sequence alignment	4	41,185
nssv14373250	duplication	HG00514	Sequencing	Sequence alignment	4	39,861
nssv14374171	duplication	HG00512	Sequencing	Sequence alignment	4	13,827
nssv14377381	duplication	SAMN00001694	Sequencing	Sequence alignment	4	16,419
nssv14378535	duplication	SAMN00001696	Sequencing	Sequence alignment	4	45,591
nssv14380171	duplication	SAMN00006466	Sequencing	Sequence alignment	4	14,137
nssv14386724	duplication	SAMN00006580	Sequencing	Sequence alignment	4	14,212
nssv14387791	duplication	SAMN00001695	Sequencing	Sequence alignment	4	15,732
nssv14389113	duplication	SAMN00006579	Sequencing	Sequence alignment	4	13,953

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14372778	Submitted genomic		NC_000016.10:g.(21 527735_21528393)_( 21564195_21564853) dup	GRCh38 (hg38)		NC_000016.10	Chr16	21,528,064 (-329, +329)	21,564,524 (-329, +329)
nssv14373250	Submitted genomic		NC_000016.10:g.(21 527735_21528393)_( 21564195_21564853) dup	GRCh38 (hg38)		NC_000016.10	Chr16	21,528,064 (-329, +329)	21,564,524 (-329, +329)
nssv14374171	Submitted genomic		NC_000016.10:g.(21 527735_21528393)_( 21564195_21564853) dup	GRCh38 (hg38)		NC_000016.10	Chr16	21,528,064 (-329, +329)	21,564,524 (-329, +329)
nssv14377381	Submitted genomic		NC_000016.10:g.(21 527735_21528393)_( 21564195_21564853) dup	GRCh38 (hg38)		NC_000016.10	Chr16	21,528,064 (-329, +329)	21,564,524 (-329, +329)
nssv14378535	Submitted genomic		NC_000016.10:g.(21 527735_21528393)_( 21564195_21564853) dup	GRCh38 (hg38)		NC_000016.10	Chr16	21,528,064 (-329, +329)	21,564,524 (-329, +329)
nssv14380171	Submitted genomic		NC_000016.10:g.(21 527735_21528393)_( 21564195_21564853) dup	GRCh38 (hg38)		NC_000016.10	Chr16	21,528,064 (-329, +329)	21,564,524 (-329, +329)
nssv14386724	Submitted genomic		NC_000016.10:g.(21 527735_21528393)_( 21564195_21564853) dup	GRCh38 (hg38)		NC_000016.10	Chr16	21,528,064 (-329, +329)	21,564,524 (-329, +329)
nssv14387791	Submitted genomic		NC_000016.10:g.(21 527735_21528393)_( 21564195_21564853) dup	GRCh38 (hg38)		NC_000016.10	Chr16	21,528,064 (-329, +329)	21,564,524 (-329, +329)
nssv14389113	Submitted genomic		NC_000016.10:g.(21 527735_21528393)_( 21564195_21564853) dup	GRCh38 (hg38)		NC_000016.10	Chr16	21,528,064 (-329, +329)	21,564,524 (-329, +329)
nssv14372778	Remapped	Perfect	NC_000016.9:g.(215 39056_21539714)_(2 1575516_21576174)d up	GRCh37.p13	First Pass	NC_000016.9	Chr16	21,539,385 (-329, +329)	21,575,845 (-329, +329)
nssv14373250	Remapped	Perfect	NC_000016.9:g.(215 39056_21539714)_(2 1575516_21576174)d up	GRCh37.p13	First Pass	NC_000016.9	Chr16	21,539,385 (-329, +329)	21,575,845 (-329, +329)
nssv14374171	Remapped	Perfect	NC_000016.9:g.(215 39056_21539714)_(2 1575516_21576174)d up	GRCh37.p13	First Pass	NC_000016.9	Chr16	21,539,385 (-329, +329)	21,575,845 (-329, +329)
nssv14377381	Remapped	Perfect	NC_000016.9:g.(215 39056_21539714)_(2 1575516_21576174)d up	GRCh37.p13	First Pass	NC_000016.9	Chr16	21,539,385 (-329, +329)	21,575,845 (-329, +329)
nssv14378535	Remapped	Perfect	NC_000016.9:g.(215 39056_21539714)_(2 1575516_21576174)d up	GRCh37.p13	First Pass	NC_000016.9	Chr16	21,539,385 (-329, +329)	21,575,845 (-329, +329)
nssv14380171	Remapped	Perfect	NC_000016.9:g.(215 39056_21539714)_(2 1575516_21576174)d up	GRCh37.p13	First Pass	NC_000016.9	Chr16	21,539,385 (-329, +329)	21,575,845 (-329, +329)
nssv14386724	Remapped	Perfect	NC_000016.9:g.(215 39056_21539714)_(2 1575516_21576174)d up	GRCh37.p13	First Pass	NC_000016.9	Chr16	21,539,385 (-329, +329)	21,575,845 (-329, +329)
nssv14387791	Remapped	Perfect	NC_000016.9:g.(215 39056_21539714)_(2 1575516_21576174)d up	GRCh37.p13	First Pass	NC_000016.9	Chr16	21,539,385 (-329, +329)	21,575,845 (-329, +329)
nssv14389113	Remapped	Perfect	NC_000016.9:g.(215 39056_21539714)_(2 1575516_21576174)d up	GRCh37.p13	First Pass	NC_000016.9	Chr16	21,539,385 (-329, +329)	21,575,845 (-329, +329)

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.

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