A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14364794



Internal ID22316921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50510963..50511971hg38UCSC Ensembl
chr12:50904746..50905754hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381009
hg191009
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215716
Supporting Variants
SamplesNA19240
Known GenesDIP2B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14364794
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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