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dbVar

Database of genomic structural variation

nsv3383818

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:9,683

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: 356 SVs from 59 studies. See in: genome view

Submitted genomic72,154,143-72,163,825

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3383818	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	72,154,143	72,163,825
nsv3383818	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	72,863,846	72,873,528

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14713552	deletion	SAMN04229552	Sequencing	de novo and local sequence assembly	24,632
nssv14714920	deletion	SAMN04229548	Sequencing	de novo and local sequence assembly	23,009
nssv14718524	deletion	SAMN03255769	Sequencing	de novo and local sequence assembly	21,134
nssv14724673	deletion	SAMN05603847	Sequencing	de novo and local sequence assembly	26,021
nssv14726627	deletion	SAMN05181962	Sequencing	de novo and local sequence assembly	23,563
nssv14726629	deletion	SAMN04251426	Sequencing	de novo and local sequence assembly	22,074

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14713552	Submitted genomic		NC_000006.12:g.721 54143_72163825del	GRCh38 (hg38)		NC_000006.12	Chr6	72,154,143	72,163,825
nssv14714920	Submitted genomic		NC_000006.12:g.721 54143_72163825del	GRCh38 (hg38)		NC_000006.12	Chr6	72,154,143	72,163,825
nssv14718524	Submitted genomic		NC_000006.12:g.721 54143_72163825del	GRCh38 (hg38)		NC_000006.12	Chr6	72,154,143	72,163,825
nssv14724673	Submitted genomic		NC_000006.12:g.721 54143_72163825del	GRCh38 (hg38)		NC_000006.12	Chr6	72,154,143	72,163,825
nssv14726627	Submitted genomic		NC_000006.12:g.721 54143_72163825del	GRCh38 (hg38)		NC_000006.12	Chr6	72,154,143	72,163,825
nssv14726629	Submitted genomic		NC_000006.12:g.721 54143_72163825del	GRCh38 (hg38)		NC_000006.12	Chr6	72,154,143	72,163,825
nssv14713552	Remapped	Perfect	NC_000006.11:g.728 63846_72873528delN C_000006.11:g.7286 3846_72873528del	GRCh37.p13	First Pass	NC_000006.11	Chr6	72,863,846	72,873,528
nssv14714920	Remapped	Perfect	NC_000006.11:g.728 63846_72873528delN C_000006.11:g.7286 3846_72873528del	GRCh37.p13	First Pass	NC_000006.11	Chr6	72,863,846	72,873,528
nssv14718524	Remapped	Perfect	NC_000006.11:g.728 63846_72873528delN C_000006.11:g.7286 3846_72873528del	GRCh37.p13	First Pass	NC_000006.11	Chr6	72,863,846	72,873,528
nssv14724673	Remapped	Perfect	NC_000006.11:g.728 63846_72873528delN C_000006.11:g.7286 3846_72873528del	GRCh37.p13	First Pass	NC_000006.11	Chr6	72,863,846	72,873,528
nssv14726627	Remapped	Perfect	NC_000006.11:g.728 63846_72873528delN C_000006.11:g.7286 3846_72873528del	GRCh37.p13	First Pass	NC_000006.11	Chr6	72,863,846	72,873,528
nssv14726629	Remapped	Perfect	NC_000006.11:g.728 63846_72873528delN C_000006.11:g.7286 3846_72873528del	GRCh37.p13	First Pass	NC_000006.11	Chr6	72,863,846	72,873,528

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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