A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528367



Internal ID15108974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:77000848..77001261hg38UCSC Ensembl
Innerchr13:77574983..77575396hg19UCSC Ensembl
Innerchr13:76472984..76473397hg18UCSC Ensembl
Innerchr13:76472984..76473397hg17UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg38414
hg19414
hg18414
hg17414
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704954
Samples
Known GenesCLN5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528367
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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