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dbVar

Database of genomic structural variation

nsv3370878

Organism: Homo sapiens

Study:nstd162 (Audano et al. 2019)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38 (hg38)

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:16,211

Publication(s):Audano 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: 554 SVs from 64 studies. See in: genome view

Submitted genomic179,200,725-179,216,935

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3370878	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	179,200,725	179,216,935
nsv3370878	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	180,065,452	180,081,662

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14635137	deletion	SAMN06885952	Sequencing	de novo and local sequence assembly	28,070
nssv14643260	deletion	SAMN02744161	Sequencing	de novo and local sequence assembly	20,941
nssv14647722	deletion	SAMN05603729	Sequencing	de novo and local sequence assembly	24,108
nssv14648217	deletion	SAMN03838746	Sequencing	de novo and local sequence assembly	26,336
nssv14650074	deletion	SAMN09690649	Sequencing	de novo and local sequence assembly	21,495
nssv14650825	deletion	SAMN05181962	Sequencing	de novo and local sequence assembly	23,563

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14635137	Submitted genomic		NC_000002.12:g.179 200725_179216935de l	GRCh38 (hg38)		NC_000002.12	Chr2	179,200,725	179,216,935
nssv14643260	Submitted genomic		NC_000002.12:g.179 200725_179216935de l	GRCh38 (hg38)		NC_000002.12	Chr2	179,200,725	179,216,935
nssv14647722	Submitted genomic		NC_000002.12:g.179 200725_179216935de l	GRCh38 (hg38)		NC_000002.12	Chr2	179,200,725	179,216,935
nssv14648217	Submitted genomic		NC_000002.12:g.179 200725_179216935de l	GRCh38 (hg38)		NC_000002.12	Chr2	179,200,725	179,216,935
nssv14650074	Submitted genomic		NC_000002.12:g.179 200725_179216935de l	GRCh38 (hg38)		NC_000002.12	Chr2	179,200,725	179,216,935
nssv14650825	Submitted genomic		NC_000002.12:g.179 200725_179216935de l	GRCh38 (hg38)		NC_000002.12	Chr2	179,200,725	179,216,935
nssv14635137	Remapped	Perfect	NC_000002.11:g.180 065452_180081662de lNC_000002.11:g.18 0065452_180081662d el	GRCh37.p13	First Pass	NC_000002.11	Chr2	180,065,452	180,081,662
nssv14643260	Remapped	Perfect	NC_000002.11:g.180 065452_180081662de lNC_000002.11:g.18 0065452_180081662d el	GRCh37.p13	First Pass	NC_000002.11	Chr2	180,065,452	180,081,662
nssv14647722	Remapped	Perfect	NC_000002.11:g.180 065452_180081662de lNC_000002.11:g.18 0065452_180081662d el	GRCh37.p13	First Pass	NC_000002.11	Chr2	180,065,452	180,081,662
nssv14648217	Remapped	Perfect	NC_000002.11:g.180 065452_180081662de lNC_000002.11:g.18 0065452_180081662d el	GRCh37.p13	First Pass	NC_000002.11	Chr2	180,065,452	180,081,662
nssv14650074	Remapped	Perfect	NC_000002.11:g.180 065452_180081662de lNC_000002.11:g.18 0065452_180081662d el	GRCh37.p13	First Pass	NC_000002.11	Chr2	180,065,452	180,081,662
nssv14650825	Remapped	Perfect	NC_000002.11:g.180 065452_180081662de lNC_000002.11:g.18 0065452_180081662d el	GRCh37.p13	First Pass	NC_000002.11	Chr2	180,065,452	180,081,662

Showing 12 of 18

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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