A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14365949



Internal ID22185719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122393911..122394512hg38UCSC Ensembl
chr12:122878458..122879059hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211891
Supporting Variants
SamplesHG00731
Known GenesCLIP1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14365949
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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