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dbVar

Database of genomic structural variation

nsv5880574

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:5,619

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: 133 SVs from 32 studies. See in: genome view

Submitted genomic69,789,648-69,795,266

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5880574	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	69,789,648	69,795,266
nsv5880574	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	70,016,780	70,022,398

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17403991	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17403991	Submitted genomic		NC_000002.12:g.697 89648_69795266dup	GRCh38 (hg38)		NC_000002.12	Chr2	69,789,648	69,795,266
nssv17403991	Remapped	Perfect	NC_000002.11:g.700 16780_70022398dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	70,016,780	70,022,398

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)
nssv17403991	0.001	2	1806

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