A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964947



Internal ID18253496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140792809..140796823hg38UCSC Ensembl
Innerchr5:140172394..140176408hg19UCSC Ensembl
Innerchr5:140152578..140156592hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg384015
hg194015
hg184015
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2379180, nssv2379179, nssv2379185, nssv2379187, nssv2379182, nssv2379183, nssv2379186, nssv2379184, nssv2379178, nssv2379181
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPCDHA1, PCDHA2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964947
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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