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dbVar

Database of genomic structural variation

nsv5567495

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:395

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: 152 SVs from 26 studies. See in: genome view

Submitted genomic70,312,506-70,312,900

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5567495	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	70,312,506	70,312,900
nsv5567495	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	71,224,741	71,225,135

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17145802	deletion	HG03371	Sequencing	Sequence alignment	2,852

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17145802	Submitted genomic		NC_000008.11:g.703 12506_70312900delT	GRCh38 (hg38)		NC_000008.11	Chr8	70,312,506	70,312,900
nssv17145802	Remapped	Perfect	NC_000008.10:g.712 24741_71225135delT	GRCh37.p13	First Pass	NC_000008.10	Chr8	71,224,741	71,225,135

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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