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dbVar

Database of genomic structural variation

nsv5938982

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:50

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: 126 SVs from 33 studies. See in: genome view

Submitted genomic57,745,294-57,745,343

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5938982	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	57,745,294	57,745,343
nsv5938982	Remapped	Perfect	GRCh37.p13	Primary Assembly	Second Pass	NC_000016.9	Chr16	57,779,206	57,779,255
nsv5938982	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_003871085.1	Chr16\|NW_0 03871085.1	5,185	5,234

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17377606	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17377606	Submitted genomic		NC_000016.10:g.577 45294_57745343del	GRCh38 (hg38)		NC_000016.10	Chr16	57,745,294	57,745,343
nssv17377606	Remapped	Perfect	NW_003871085.1:g.5 185_5234del	GRCh37.p13	First Pass	NW_003871085.1	Chr16\|NW_0 03871085.1	5,185	5,234
nssv17377606	Remapped	Perfect	NC_000016.9:g.5777 9206_57779255del	GRCh37.p13	Second Pass	NC_000016.9	Chr16	57,779,206	57,779,255

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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