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dbVar

Database of genomic structural variation

nsv5593494

Organism: Homo sapiens

Study:nstd207 (Ebert et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:2,037

Publication(s):Ebert et al. 2021

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: 167 SVs from 49 studies. See in: genome view

Submitted genomic21,484,465-21,486,501

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5593494	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	21,484,465	21,486,501
nsv5593494	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	21,952,624	21,954,660

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17089224	deletion	SAMN00006579	Sequencing	Sequence alignment	23,265

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17089224	Submitted genomic		NC_000014.9:g.2148 4465_21486501delC	GRCh38 (hg38)		NC_000014.9	Chr14	21,484,465	21,486,501
nssv17089224	Remapped	Perfect	NC_000014.8:g.2195 2624_21954660delC	GRCh37.p13	First Pass	NC_000014.8	Chr14	21,952,624	21,954,660

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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