A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16914117



Internal ID10166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74668936..75021425hg38UCSC Ensembl
chr2:74896063..75248552hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38352490
hg19352490
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443004
Supporting Variants
Samples
Known GenesHK2, POLE4, SEMA4F
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16914117
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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