Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv5576044

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:99

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: 175 SVs from 21 studies. See in: genome view

Submitted genomic93,644,670-93,644,768

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5576044	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	93,644,670	93,644,768
nsv5576044	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	94,656,898	94,656,996

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17159201	deletion	NA24385	Sequencing	Sequence alignment	2,573

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17159201	Submitted genomic		NC_000008.11:g.936 44670_93644768delA	GRCh38 (hg38)		NC_000008.11	Chr8	93,644,670	93,644,768
nssv17159201	Remapped	Perfect	NC_000008.10:g.946 56898_94656996delA	GRCh37.p13	First Pass	NC_000008.10	Chr8	94,656,898	94,656,996

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.

You are here: NCBI