A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599870



Internal ID16387279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140851652..140853802hg38UCSC Ensembl
Innerchr5:140231237..140233387hg19UCSC Ensembl
Innerchr5:140211421..140213571hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg382151
hg192151
hg182151
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1042239, nssv1042238
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)nsv599870
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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