A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981177



Internal ID18616376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:116038969..116041417hg38UCSC Ensembl
Innerchr6:116360132..116362580hg19UCSC Ensembl
Innerchr6:116466825..116469273hg18UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg382449
hg192449
hg182449
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2420678, nssv2420147, nssv2420679, nssv2420144, nssv2420145, nssv2420677, nssv2420143, nssv2420142, nssv2420146, nssv2420676
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFRK, TPI1P3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981177
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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