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dbVar

Database of genomic structural variation

nsv3206995

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:20,681

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: 1255 SVs from 85 studies. See in: genome view

Submitted genomic295,336-316,674

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3206995	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	295,665 (-329, +329)	316,345 (-329, +329)
nsv3206995	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	295,665 (-329, +329)	316,345 (-329, +329)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv14324177	duplication	HG00512	Sequencing	Sequence alignment	3	13,827
nssv14324178	duplication	SAMN00006466	Sequencing	Sequence alignment	4	14,137
nssv14324179	duplication	HG00514	Sequencing	Sequence alignment	4	39,861
nssv14324180	duplication	SAMN00006579	Sequencing	Sequence alignment	4	13,953
nssv14324181	duplication	SAMN00006580	Sequencing	Sequence alignment	3	14,212
nssv14324182	duplication	SAMN00006581	Sequencing	Sequence alignment	4	41,185
nssv14324183	duplication	SAMN00001694	Sequencing	Sequence alignment	4	16,419
nssv14324184	duplication	SAMN00001695	Sequencing	Sequence alignment	4	15,732
nssv14324185	duplication	SAMN00001696	Sequencing	Sequence alignment	4	45,591

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14324177	Submitted genomic		NC_000006.12:g.(29 5336_295994)_(3160 16_316674)dup	GRCh38 (hg38)		NC_000006.12	Chr6	295,665 (-329, +329)	316,345 (-329, +329)
nssv14324178	Submitted genomic		NC_000006.12:g.(29 5336_295994)_(3160 16_316674)dup	GRCh38 (hg38)		NC_000006.12	Chr6	295,665 (-329, +329)	316,345 (-329, +329)
nssv14324179	Submitted genomic		NC_000006.12:g.(29 5336_295994)_(3160 16_316674)dup	GRCh38 (hg38)		NC_000006.12	Chr6	295,665 (-329, +329)	316,345 (-329, +329)
nssv14324180	Submitted genomic		NC_000006.12:g.(29 5336_295994)_(3160 16_316674)dup	GRCh38 (hg38)		NC_000006.12	Chr6	295,665 (-329, +329)	316,345 (-329, +329)
nssv14324181	Submitted genomic		NC_000006.12:g.(29 5336_295994)_(3160 16_316674)dup	GRCh38 (hg38)		NC_000006.12	Chr6	295,665 (-329, +329)	316,345 (-329, +329)
nssv14324182	Submitted genomic		NC_000006.12:g.(29 5336_295994)_(3160 16_316674)dup	GRCh38 (hg38)		NC_000006.12	Chr6	295,665 (-329, +329)	316,345 (-329, +329)
nssv14324183	Submitted genomic		NC_000006.12:g.(29 5336_295994)_(3160 16_316674)dup	GRCh38 (hg38)		NC_000006.12	Chr6	295,665 (-329, +329)	316,345 (-329, +329)
nssv14324184	Submitted genomic		NC_000006.12:g.(29 5336_295994)_(3160 16_316674)dup	GRCh38 (hg38)		NC_000006.12	Chr6	295,665 (-329, +329)	316,345 (-329, +329)
nssv14324185	Submitted genomic		NC_000006.12:g.(29 5336_295994)_(3160 16_316674)dup	GRCh38 (hg38)		NC_000006.12	Chr6	295,665 (-329, +329)	316,345 (-329, +329)
nssv14324177	Remapped	Perfect	NC_000006.11:g.(29 5336_295994)_(3160 16_316674)dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	295,665 (-329, +329)	316,345 (-329, +329)
nssv14324178	Remapped	Perfect	NC_000006.11:g.(29 5336_295994)_(3160 16_316674)dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	295,665 (-329, +329)	316,345 (-329, +329)
nssv14324179	Remapped	Perfect	NC_000006.11:g.(29 5336_295994)_(3160 16_316674)dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	295,665 (-329, +329)	316,345 (-329, +329)
nssv14324180	Remapped	Perfect	NC_000006.11:g.(29 5336_295994)_(3160 16_316674)dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	295,665 (-329, +329)	316,345 (-329, +329)
nssv14324181	Remapped	Perfect	NC_000006.11:g.(29 5336_295994)_(3160 16_316674)dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	295,665 (-329, +329)	316,345 (-329, +329)
nssv14324182	Remapped	Perfect	NC_000006.11:g.(29 5336_295994)_(3160 16_316674)dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	295,665 (-329, +329)	316,345 (-329, +329)
nssv14324183	Remapped	Perfect	NC_000006.11:g.(29 5336_295994)_(3160 16_316674)dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	295,665 (-329, +329)	316,345 (-329, +329)
nssv14324184	Remapped	Perfect	NC_000006.11:g.(29 5336_295994)_(3160 16_316674)dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	295,665 (-329, +329)	316,345 (-329, +329)
nssv14324185	Remapped	Perfect	NC_000006.11:g.(29 5336_295994)_(3160 16_316674)dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	295,665 (-329, +329)	316,345 (-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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