A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973246



Internal ID18608461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:40254521..40258383hg38UCSC Ensembl
Innerchr9:42399539..42403401hg19UCSC Ensembl
Innerchr9:42389535..42393397hg18UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg383863
hg193863
hg183863
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv85n82
Supporting Variantsnssv2726751, nssv2726757, nssv2726749, nssv2726750, nssv2726753, nssv2726754, nssv2726752, nssv2726758, nssv2726756, nssv2726755
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANKRD20A2, ANKRD20A3
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973246
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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