A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969006



Internal ID18604234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:156847127..156853361hg38UCSC Ensembl
Innerchr5:156274138..156280372hg19UCSC Ensembl
Innerchr5:156206716..156212950hg18UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg386235
hg196235
hg186235
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2384326, nssv2384321, nssv2384328, nssv2384325, nssv2384327, nssv2384329, nssv2384330, nssv2384323, nssv2384324, nssv2384322
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPPP1R2P3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv969006
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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