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dbVar

Database of genomic structural variation

nsv5941215

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:282

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: 92 SVs from 28 studies. See in: genome view

Submitted genomic109,827,587-109,827,868

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5941215	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	109,827,587	109,827,868
nsv5941215	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	110,265,392	110,265,673

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17364134	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17364134	Submitted genomic		NC_000012.12:g.109 827587_109827868de l	GRCh38 (hg38)		NC_000012.12	Chr12	109,827,587	109,827,868
nssv17364134	Remapped	Perfect	NC_000012.11:g.110 265392_110265673de l	GRCh37.p13	First Pass	NC_000012.11	Chr12	110,265,392	110,265,673

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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