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dbVar

Database of genomic structural variation

nsv5595238

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:104

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: 204 SVs from 53 studies. See in: genome view

Submitted genomic21,403,979-21,404,082

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5595238	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	21,403,979	21,404,082
nsv5595238	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	21,415,300	21,415,403

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17090434	deletion	SAMN00001695	Sequencing	Sequence alignment	6,153

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17090434	Submitted genomic		NC_000016.10:g.214 03979_21404082delC	GRCh38 (hg38)		NC_000016.10	Chr16	21,403,979	21,404,082
nssv17090434	Remapped	Perfect	NC_000016.9:g.2141 5300_21415403delC	GRCh37.p13	First Pass	NC_000016.9	Chr16	21,415,300	21,415,403

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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