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dbVar

Database of genomic structural variation

nsv5941535

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:75

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: 258 SVs from 36 studies. See in: genome view

Submitted genomic81,419,648-81,419,722

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5941535	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	81,419,648	81,419,722
nsv5941535	Remapped	Perfect	GRCh37.p13	Primary Assembly	Second Pass	NC_000017.10	Chr17	79,393,448	79,393,522
nsv5941535	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_003871087.1	Chr17\|NW_0 03871087.1	74,286	74,360

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17384834	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17384834	Submitted genomic		NC_000017.11:g.814 19648_81419722del	GRCh38 (hg38)		NC_000017.11	Chr17	81,419,648	81,419,722
nssv17384834	Remapped	Perfect	NW_003871087.1:g.7 4286_74360del	GRCh37.p13	First Pass	NW_003871087.1	Chr17\|NW_0 03871087.1	74,286	74,360
nssv17384834	Remapped	Perfect	NC_000017.10:g.793 93448_79393522del	GRCh37.p13	Second Pass	NC_000017.10	Chr17	79,393,448	79,393,522

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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