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

dbVar

Database of genomic structural variation

nsv5925633

Organism: Homo sapiens

Study:nstd209 (Almarri et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:66

Publication(s):Almarri et al. 2020

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: 432 SVs from 48 studies. See in: genome view

Submitted genomic144,426,510-144,426,575

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5925633	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	144,426,510	144,426,575
nsv5925633	Remapped	Perfect	GRCh37.p13	Primary Assembly	Second Pass	NC_000008.10	Chr8	145,651,893	145,651,958
nsv5925633	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_003315924.1	Chr8\|NW_00 3315924.1	195,769	195,834

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17447784	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17447784	Submitted genomic		NC_000008.11:g.144 426510_144426575de l	GRCh38 (hg38)		NC_000008.11	Chr8	144,426,510	144,426,575
nssv17447784	Remapped	Perfect	NW_003315924.1:g.1 95769_195834del	GRCh37.p13	First Pass	NW_003315924.1	Chr8\|NW_00 3315924.1	195,769	195,834
nssv17447784	Remapped	Perfect	NC_000008.10:g.145 651893_145651958de l	GRCh37.p13	Second Pass	NC_000008.10	Chr8	145,651,893	145,651,958

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