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dbVar

Database of genomic structural variation

nsv3350710

Organism: Homo sapiens

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

Variant Calls:4
Validation:Not tested
Clinical Assertions: No
Region Size:8,761

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: 314 SVs from 63 studies. See in: genome view

Submitted genomic79,639,946-79,648,706

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3350710	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	79,639,946	79,648,706
nsv3350710	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	80,106,289	80,115,049

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14558981	deletion	SAMN05603729	Sequencing	de novo and local sequence assembly	24,108
nssv14562615	deletion	SAMN04229548	Sequencing	de novo and local sequence assembly	23,009
nssv14563231	deletion	SAMN05181962	Sequencing	de novo and local sequence assembly	23,563
nssv14566685	deletion	SAMN09690649	Sequencing	de novo and local sequence assembly	21,495

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14558981	Submitted genomic		NC_000014.9:g.7963 9946_79648706del	GRCh38 (hg38)		NC_000014.9	Chr14	79,639,946	79,648,706
nssv14562615	Submitted genomic		NC_000014.9:g.7963 9946_79648706del	GRCh38 (hg38)		NC_000014.9	Chr14	79,639,946	79,648,706
nssv14563231	Submitted genomic		NC_000014.9:g.7963 9946_79648706del	GRCh38 (hg38)		NC_000014.9	Chr14	79,639,946	79,648,706
nssv14566685	Submitted genomic		NC_000014.9:g.7963 9946_79648706del	GRCh38 (hg38)		NC_000014.9	Chr14	79,639,946	79,648,706
nssv14558981	Remapped	Perfect	NC_000014.8:g.8010 6289_80115049delNC _000014.8:g.801062 89_80115049del	GRCh37.p13	First Pass	NC_000014.8	Chr14	80,106,289	80,115,049
nssv14562615	Remapped	Perfect	NC_000014.8:g.8010 6289_80115049delNC _000014.8:g.801062 89_80115049del	GRCh37.p13	First Pass	NC_000014.8	Chr14	80,106,289	80,115,049
nssv14563231	Remapped	Perfect	NC_000014.8:g.8010 6289_80115049delNC _000014.8:g.801062 89_80115049del	GRCh37.p13	First Pass	NC_000014.8	Chr14	80,106,289	80,115,049
nssv14566685	Remapped	Perfect	NC_000014.8:g.8010 6289_80115049delNC _000014.8:g.801062 89_80115049del	GRCh37.p13	First Pass	NC_000014.8	Chr14	80,106,289	80,115,049

Showing 8 of 12

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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