A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968956



Internal ID18604184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:83053131..83054263hg38UCSC Ensembl
Innerchr5:82348950..82350082hg19UCSC Ensembl
Innerchr5:82384706..82385838hg18UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg381133
hg191133
hg181133
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2368470, nssv2368471, nssv2368477, nssv2368478, nssv2368469, nssv2368473, nssv2368475, nssv2368474, nssv2368476, nssv2368472
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTMEM167A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968956
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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