A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213733



Internal ID22360586
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14338866, nssv14338867
SamplesHG00732, HG00513
Known GenesUBE3C
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213733
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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