A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688611



Internal ID112277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64286882..64293846hg38UCSC Ensembl
chr12:64680662..64687626hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg386965
hg196965
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142951
Supporting Variants
Samples
Known GenesC12orf56
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688611
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.01443


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