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

dbVar

Database of genomic structural variation

nsv5579419

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:54

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: 122 SVs from 32 studies. See in: genome view

Submitted genomic231,165,024-231,165,077

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5579419	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	231,165,024	231,165,077
nsv5579419	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	232,029,738	232,029,791

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17111795	deletion	SAMN00801888	Sequencing	Sequence alignment	2,004

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17111795	Submitted genomic		NC_000002.12:g.231 165024_231165077de lT	GRCh38 (hg38)		NC_000002.12	Chr2	231,165,024	231,165,077
nssv17111795	Remapped	Perfect	NC_000002.11:g.232 029738_232029791de lT	GRCh37.p13	First Pass	NC_000002.11	Chr2	232,029,738	232,029,791

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