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dbVar

Database of genomic structural variation

nsv5592867

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:182

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: 196 SVs from 56 studies. See in: genome view

Submitted genomic21,418,041-21,418,222

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5592867	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	21,418,041	21,418,222
nsv5592867	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	21,429,362	21,429,543

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17090880	deletion	SAMN00006466	Sequencing	Sequence alignment	4,625

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17090880	Submitted genomic		NC_000016.10:g.214 18041_21418222delC	GRCh38 (hg38)		NC_000016.10	Chr16	21,418,041	21,418,222
nssv17090880	Remapped	Perfect	NC_000016.9:g.2142 9362_21429543delC	GRCh37.p13	First Pass	NC_000016.9	Chr16	21,429,362	21,429,543

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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