A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599829



Internal ID16040552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140835347..140848414hg38UCSC Ensembl
Innerchr5:140214932..140227999hg19UCSC Ensembl
Innerchr5:140195116..140208183hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3813068
hg1913068
hg1813068
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10092n54
Supporting Variantsnssv1042103
Samples
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599829
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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