A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979014



Internal ID18614217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:68526082..68531291hg38UCSC Ensembl
Innerchr2:68753214..68758423hg19UCSC Ensembl
Innerchr2:68606718..68611927hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg385210
hg195210
hg185210
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv44n82
Supporting Variantsnssv2176048, nssv2176055, nssv2176056, nssv2176053, nssv2176051, nssv2176052, nssv2176047, nssv2176049, nssv2176050, nssv2176054
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAPLF
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979014
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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