A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980745



Internal ID18615945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:151803863..151804649hg38UCSC Ensembl
Innerchr5:151183424..151184210hg19UCSC Ensembl
Innerchr5:151163617..151164403hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38787
hg19787
hg18787
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2383580, nssv2382784, nssv2383581, nssv2382785, nssv2382782, nssv2382787, nssv2382780, nssv2382786, nssv2382781, nssv2382783
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesG3BP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980745
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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