A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16913263



Internal ID9591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:44940690..44940765hg38UCSC Ensembl
chr2:45167829..45167904hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5441703
Supporting Variants
Samples
Known GenesSIX3-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16913263
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.007649


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