A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16917746



Internal ID12570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127273741..127274010hg38UCSC Ensembl
chr2:128031317..128031586hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5453254
Supporting Variants
Samples
Known GenesERCC3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16917746
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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