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dbVar

Database of genomic structural variation

nsv5938129

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:4,377

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: 157 SVs from 43 studies. See in: genome view

Submitted genomic2,530,778-2,535,154

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5938129	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000020.11	Chr20	2,530,778	2,535,154
nsv5938129	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	2,511,424	2,515,800

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17390624	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17390624	Submitted genomic		NC_000020.11:g.253 0778_2535154dup	GRCh38 (hg38)		NC_000020.11	Chr20	2,530,778	2,535,154
nssv17390624	Remapped	Perfect	NC_000020.10:g.251 1424_2515800dup	GRCh37.p13	First Pass	NC_000020.10	Chr20	2,511,424	2,515,800

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)
nssv17390624	0.001	1	1812

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