A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494176



Internal ID271329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:65116262..65130269hg38UCSC Ensembl
chr12:65510042..65524049hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3814008
hg1914008
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688661
Samples
Known GenesWIF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494176
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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