A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599877



Internal ID16387286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140851652..140859109hg38UCSC Ensembl
Innerchr5:140231237..140238694hg19UCSC Ensembl
Innerchr5:140211421..140218878hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg387458
hg197458
hg187458
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10099n54
Supporting Variantsnssv1042290, nssv1042291, nssv1042292, nssv1042294, nssv1042293
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)nsv599877
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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