A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14365946



Internal ID22270598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121920142..121920469hg38UCSC Ensembl
chr12:122358048..122358375hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219596
Supporting Variants
SamplesNA19239
Known GenesWDR66
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14365946
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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