A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599904



Internal ID16040627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140927699..140935840hg38UCSC Ensembl
Innerchr5:140307284..140315425hg19UCSC Ensembl
Innerchr5:140287468..140295609hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg388142
hg198142
hg188142
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1042400
Samples
Known GenesPCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHAC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599904
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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