A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979074



Internal ID18614277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:100108786..100109905hg38UCSC Ensembl
Innerchr2:100725248..100726367hg19UCSC Ensembl
Innerchr2:100091680..100092799hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg381120
hg191120
hg181120
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2194121, nssv2194120, nssv2194119, nssv2194117, nssv2194116, nssv2194122, nssv2194118, nssv2194114, nssv2194123, nssv2194115
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAFF3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979074
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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