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dbVar

Database of genomic structural variation

nsv5917325

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:126

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: 122 SVs from 25 studies. See in: genome view

Submitted genomic91,727,045-91,727,170

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5917325	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000009.12	Chr9	91,727,045	91,727,170
nsv5917325	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	94,489,327	94,489,452

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17445778	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17445778	Submitted genomic		NC_000009.12:g.917 27045_91727170dup	GRCh38 (hg38)		NC_000009.12	Chr9	91,727,045	91,727,170
nssv17445778	Remapped	Perfect	NC_000009.11:g.944 89327_94489452dup	GRCh37.p13	First Pass	NC_000009.11	Chr9	94,489,327	94,489,452

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)
nssv17445778	0.001	1	1534

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