A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16924036



Internal ID16779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:128270032..128272165hg38UCSC Ensembl
chr2:129027606..129029739hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg382134
hg192134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5440998
Supporting Variants
Samples
Known GenesHS6ST1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16924036
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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