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dbVar

Database of genomic structural variation

nsv5876289

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:122,144

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: 849 SVs from 74 studies. See in: genome view

Submitted genomic48,017,197-48,139,340

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5876289	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000023.11	ChrX	48,017,197	48,139,340
nsv5876289	Remapped	Good	GRCh37.p13	Primary Assembly	Second Pass	NC_000023.10	ChrX	47,876,592	47,998,761
nsv5876289	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_004070880.2	ChrX\|NW_00 4070880.2	256,626	378,769

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17456718	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17456718	Submitted genomic		NC_000023.11:g.480 17197_48139340del	GRCh38 (hg38)		NC_000023.11	ChrX	48,017,197	48,139,340
nssv17456718	Remapped	Perfect	NW_004070880.2:g.2 56626_378769del	GRCh37.p13	First Pass	NW_004070880.2	ChrX\|NW_00 4070880.2	256,626	378,769
nssv17456718	Remapped	Good	NC_000023.10:g.478 76592_47998761del	GRCh37.p13	Second Pass	NC_000023.10	ChrX	47,876,592	47,998,761

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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