A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983856



Internal ID18272362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:102080748..102084595hg38UCSC Ensembl
Innerchr14:102547085..102550932hg19UCSC Ensembl
Innerchr14:101616838..101620685hg18UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg383848
hg193848
hg183848
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1997678, nssv1997679, nssv1997682, nssv1997683, nssv1997675, nssv1997676, nssv1997680, nssv1997677, nssv1997674, nssv1997681
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHSP90AA1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983856
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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