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dbVar

Database of genomic structural variation

nsv3218492

Organism: Homo sapiens

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

Variant Calls:7
Validation:Not tested
Clinical Assertions: No
Region Size:128,820

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: 389 SVs from 64 studies. See in: genome view

Submitted genomic68,515,147-68,644,014

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3218492	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000011.10	Chr11	68,515,171 (-24, +24)	68,643,990 (-24, +24)
nsv3218492	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	68,282,639 (-24, +24)	68,411,458 (-24, +24)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
nssv14360607	duplication	SAMN00006466	Sequencing	Sequence alignment	Heterozygous	14,137
nssv14360608	duplication	HG00514	Sequencing	Sequence alignment	Heterozygous	39,861
nssv14360609	duplication	SAMN00006579	Sequencing	Sequence alignment	Heterozygous	13,953
nssv14360610	duplication	SAMN00006580	Sequencing	Sequence alignment	Heterozygous	14,212
nssv14360611	duplication	SAMN00006581	Sequencing	Sequence alignment	Heterozygous	41,185
nssv14360612	duplication	SAMN00001694	Sequencing	Sequence alignment	Heterozygous	16,419
nssv14360613	duplication	SAMN00001696	Sequencing	Sequence alignment	Heterozygous	45,591

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14360607	Submitted genomic		NC_000011.10:g.(68 515147_68515195)_( 68643966_68644014) dup	GRCh38 (hg38)		NC_000011.10	Chr11	68,515,171 (-24, +24)	68,643,990 (-24, +24)
nssv14360608	Submitted genomic		NC_000011.10:g.(68 515147_68515195)_( 68643966_68644014) dup	GRCh38 (hg38)		NC_000011.10	Chr11	68,515,171 (-24, +24)	68,643,990 (-24, +24)
nssv14360609	Submitted genomic		NC_000011.10:g.(68 515147_68515195)_( 68643966_68644014) dup	GRCh38 (hg38)		NC_000011.10	Chr11	68,515,171 (-24, +24)	68,643,990 (-24, +24)
nssv14360610	Submitted genomic		NC_000011.10:g.(68 515147_68515195)_( 68643966_68644014) dup	GRCh38 (hg38)		NC_000011.10	Chr11	68,515,171 (-24, +24)	68,643,990 (-24, +24)
nssv14360611	Submitted genomic		NC_000011.10:g.(68 515147_68515195)_( 68643966_68644014) dup	GRCh38 (hg38)		NC_000011.10	Chr11	68,515,171 (-24, +24)	68,643,990 (-24, +24)
nssv14360612	Submitted genomic		NC_000011.10:g.(68 515147_68515195)_( 68643966_68644014) dup	GRCh38 (hg38)		NC_000011.10	Chr11	68,515,171 (-24, +24)	68,643,990 (-24, +24)
nssv14360613	Submitted genomic		NC_000011.10:g.(68 515147_68515195)_( 68643966_68644014) dup	GRCh38 (hg38)		NC_000011.10	Chr11	68,515,171 (-24, +24)	68,643,990 (-24, +24)
nssv14360607	Remapped	Perfect	NC_000011.9:g.(682 82615_68282663)_(6 8411434_68411482)d up	GRCh37.p13	First Pass	NC_000011.9	Chr11	68,282,639 (-24, +24)	68,411,458 (-24, +24)
nssv14360608	Remapped	Perfect	NC_000011.9:g.(682 82615_68282663)_(6 8411434_68411482)d up	GRCh37.p13	First Pass	NC_000011.9	Chr11	68,282,639 (-24, +24)	68,411,458 (-24, +24)
nssv14360609	Remapped	Perfect	NC_000011.9:g.(682 82615_68282663)_(6 8411434_68411482)d up	GRCh37.p13	First Pass	NC_000011.9	Chr11	68,282,639 (-24, +24)	68,411,458 (-24, +24)
nssv14360610	Remapped	Perfect	NC_000011.9:g.(682 82615_68282663)_(6 8411434_68411482)d up	GRCh37.p13	First Pass	NC_000011.9	Chr11	68,282,639 (-24, +24)	68,411,458 (-24, +24)
nssv14360611	Remapped	Perfect	NC_000011.9:g.(682 82615_68282663)_(6 8411434_68411482)d up	GRCh37.p13	First Pass	NC_000011.9	Chr11	68,282,639 (-24, +24)	68,411,458 (-24, +24)
nssv14360612	Remapped	Perfect	NC_000011.9:g.(682 82615_68282663)_(6 8411434_68411482)d up	GRCh37.p13	First Pass	NC_000011.9	Chr11	68,282,639 (-24, +24)	68,411,458 (-24, +24)
nssv14360613	Remapped	Perfect	NC_000011.9:g.(682 82615_68282663)_(6 8411434_68411482)d up	GRCh37.p13	First Pass	NC_000011.9	Chr11	68,282,639 (-24, +24)	68,411,458 (-24, +24)

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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