A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599850



Internal ID16387259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140846323..140864165hg38UCSC Ensembl
Innerchr5:140225908..140243750hg19UCSC Ensembl
Innerchr5:140206092..140223934hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3817843
hg1917843
hg1817843
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10095n54
Supporting Variantsnssv1042189, nssv1042181, nssv1042186, nssv1042177, nssv1042172, nssv1042182, nssv1042173, nssv1042171, nssv1042184, nssv1042183, nssv1042188, nssv1042180, nssv1042185, nssv1042176, nssv1042178, nssv1042179, nssv1042187, nssv1042175, nssv1042174
Samples
Known GenesPCDHA1, PCDHA10, 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)nsv599850
Frequency
Sample Size17421
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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