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

dbVar

Database of genomic structural variation

nsv5882241

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:3,347

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: 454 SVs from 38 studies. See in: genome view

Submitted genomic47,086,090-47,089,436

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5882241	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000023.11	ChrX	47,086,090	47,089,436
nsv5882241	Remapped	Perfect	GRCh37.p13	Primary Assembly	Second Pass	NC_000023.10	ChrX	46,945,489	46,948,835
nsv5882241	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_004166866.1	ChrX\|NW_00 4166866.1	335,651	338,997

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17464487	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17464487	Submitted genomic		NC_000023.11:g.470 86090_47089436del	GRCh38 (hg38)		NC_000023.11	ChrX	47,086,090	47,089,436
nssv17464487	Remapped	Perfect	NW_004166866.1:g.3 35651_338997del	GRCh37.p13	First Pass	NW_004166866.1	ChrX\|NW_00 4166866.1	335,651	338,997
nssv17464487	Remapped	Perfect	NC_000023.10:g.469 45489_46948835del	GRCh37.p13	Second Pass	NC_000023.10	ChrX	46,945,489	46,948,835

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