A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969003



Internal ID18257545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:146706480..146707666hg38UCSC Ensembl
Innerchr5:146086043..146087229hg19UCSC Ensembl
Innerchr5:146066236..146067422hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381187
hg191187
hg181187
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2381466, nssv2381467, nssv2381465, nssv2382262, nssv2382261, nssv2381464, nssv2382264, nssv2382263, nssv2381463, nssv2382260
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPPP2R2B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv969003
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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