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dbVar

Database of genomic structural variation

nsv5887731

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:136

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

Submitted genomic69,171,654-69,171,789

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5887731	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	69,171,654	69,171,789
nsv5887731	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	69,220,805	69,220,940

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17416064	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17416064	Submitted genomic		NC_000003.12:g.691 71654_69171789dup	GRCh38 (hg38)		NC_000003.12	Chr3	69,171,654	69,171,789
nssv17416064	Remapped	Perfect	NC_000003.11:g.692 20805_69220940dup	GRCh37.p13	First Pass	NC_000003.11	Chr3	69,220,805	69,220,940

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)
nssv17416064	0.002	3	1694

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