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dbVar

Database of genomic structural variation

nsv5893937

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:62

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: 112 SVs from 27 studies. See in: genome view

Submitted genomic36,100,380-36,100,441

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5893937	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	36,100,380	36,100,441
nsv5893937	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	36,102,002	36,102,063

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17412141	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17412141	Submitted genomic		NC_000004.12:g.361 00380_36100441dup	GRCh38 (hg38)		NC_000004.12	Chr4	36,100,380	36,100,441
nssv17412141	Remapped	Perfect	NC_000004.11:g.361 02002_36102063dup	GRCh37.p13	First Pass	NC_000004.11	Chr4	36,102,002	36,102,063

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)
nssv17412141	0.002	4	1724

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