A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14365975



Internal ID22120384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122807048..122807703hg38UCSC Ensembl
chr12:123291595..123292250hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38656
hg19656
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221422
Supporting Variants
SamplesHG00512
Known GenesCCDC62
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14365975
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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