A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193500



Internal ID22343938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42522301..42529100hg38UCSC Ensembl
chr3:42563793..42570592hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg386800
hg196800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14306130, nssv14306126, nssv14306125, nssv14306127, nssv14306123, nssv14306129, nssv14306128, nssv14306122, nssv14306124
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesVIPR1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193500
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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