A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946140



Internal ID18246304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:111459496..111461523hg38UCSC Ensembl
Innerchr1:112002118..112004145hg19UCSC Ensembl
Innerchr1:111803641..111805668hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg382028
hg192028
hg182028
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1782059, nssv1782056, nssv1782058, nssv1782053, nssv1782057, nssv1782051, nssv1782050, nssv1782054, nssv1782052, nssv1782055
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesATP5F1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946140
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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