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dbVar

Database of genomic structural variation

nsv5888440

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:625

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

Submitted genomic17,690,888-17,691,512

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5888440	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	17,690,888	17,691,512
nsv5888440	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	17,691,119	17,691,743

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17410102	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17410102	Submitted genomic		NC_000006.12:g.176 90888_17691512dup	GRCh38 (hg38)		NC_000006.12	Chr6	17,690,888	17,691,512
nssv17410102	Remapped	Perfect	NC_000006.11:g.176 91119_17691743dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	17,691,119	17,691,743

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv17410102	0.001	1	1782

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