A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16904792



Internal ID4015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40661791..40663663hg38UCSC Ensembl
chr1:41127463..41129335hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381873
hg191873
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5433191
Supporting Variants
Samples
Known GenesRIMS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16904792
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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