A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14338867



Internal ID22206677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:157264462..157264518hg38UCSC Ensembl
chr7:157057156..157057212hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213733
Supporting Variants
SamplesHG00732
Known GenesUBE3C
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14338867
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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