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dbVar

Database of genomic structural variation

nsv3323863

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:10,555

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: 316 SVs from 69 studies. See in: genome view

Submitted genomic34,635,822-34,646,376

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3323863	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	34,635,822	34,646,376
nsv3323863	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	35,101,423	35,111,977

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14475168	deletion	SAMN09643900	Sequencing	de novo and local sequence assembly	26,631
nssv14479943	deletion	SAMN04229548	Sequencing	de novo and local sequence assembly	23,009
nssv14485172	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
nssv14475168	Submitted genomic		NC_000001.11:g.346 35822_34646376del	GRCh38 (hg38)		NC_000001.11	Chr1	34,635,822	34,646,376
nssv14479943	Submitted genomic		NC_000001.11:g.346 35822_34646376del	GRCh38 (hg38)		NC_000001.11	Chr1	34,635,822	34,646,376
nssv14485172	Submitted genomic		NC_000001.11:g.346 35822_34646376del	GRCh38 (hg38)		NC_000001.11	Chr1	34,635,822	34,646,376
nssv14475168	Remapped	Perfect	NC_000001.10:g.351 01423_35111977delN C_000001.10:g.3510 1423_35111977del	GRCh37.p13	First Pass	NC_000001.10	Chr1	35,101,423	35,111,977
nssv14479943	Remapped	Perfect	NC_000001.10:g.351 01423_35111977delN C_000001.10:g.3510 1423_35111977del	GRCh37.p13	First Pass	NC_000001.10	Chr1	35,101,423	35,111,977
nssv14485172	Remapped	Perfect	NC_000001.10:g.351 01423_35111977delN C_000001.10:g.3510 1423_35111977del	GRCh37.p13	First Pass	NC_000001.10	Chr1	35,101,423	35,111,977

Showing 6 of 9

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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