A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979106



Internal ID18614309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:113494928..113507574hg38UCSC Ensembl
Innerchr2:114252505..114265151hg19UCSC Ensembl
Innerchr2:113968975..113981621hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3812647
hg1912647
hg1812647
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2199557, nssv2199556, nssv2199554, nssv2199552, nssv2199550, nssv2199558, nssv2199553, nssv2199555, nssv2199549, nssv2199551
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCBWD2, FOXD4L1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979106
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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