A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2917740



Internal ID15461689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140844231..140859031hg38UCSC Ensembl
Innerchr5:140223816..140238616hg19UCSC Ensembl
Innerchr5:140204000..140218800hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3814801
hg1914801
hg1814801
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514324
Supporting Variants
SamplesNA21615
Known GenesPCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2917740
Frequency
Sample Size2366
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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