A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223801



Internal ID22367465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:53328576..53328639hg38UCSC Ensembl
chr13:53902711..53902774hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2278n152
Supporting Variantsnssv14369171, nssv14369168, nssv14369167, nssv14369169, nssv14369170, nssv14368544, nssv14368543, nssv14369172
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223801
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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