A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967584



Internal ID18256126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:43084613..43085832hg38UCSC Ensembl
Innerchr8:42939756..42940975hg19UCSC Ensembl
Innerchr8:43058913..43060132hg18UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381220
hg191220
hg181220
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2501665, nssv2501657, nssv2501666, nssv2501660, nssv2501659, nssv2501662, nssv2501664, nssv2501658, nssv2501663, nssv2501661
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFNTA
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967584
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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