A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1042108



Internal ID15548608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140835410..140848414hg38UCSC Ensembl
Innerchr5:140214995..140227999hg19UCSC Ensembl
Innerchr5:140195179..140208183hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3813005
hg1913005
hg1813005
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv599833
Supporting Variants
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)nssv1042108
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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