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dbVar

Database of genomic structural variation

nsv5565319

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:43,616

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

Submitted genomic59,729,640-59,773,255

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5565319	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	59,729,640	59,773,255
nsv5565319	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	60,642,199	60,685,814

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17148075	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
nssv17148075	Submitted genomic		NC_000008.11:g.597 29640_59773255delG	GRCh38 (hg38)		NC_000008.11	Chr8	59,729,640	59,773,255
nssv17148075	Remapped	Perfect	NC_000008.10:g.606 42199_60685814delG	GRCh37.p13	First Pass	NC_000008.10	Chr8	60,642,199	60,685,814

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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