A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976348



Internal ID18264868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:66757249..66762291hg38UCSC Ensembl
Innerchr14:67223967..67229009hg19UCSC Ensembl
Innerchr14:66293720..66298762hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg385043
hg195043
hg185043
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1990279, nssv1990284, nssv1990281, nssv1990280, nssv1990285, nssv1990288, nssv1990286, nssv1990287, nssv1990282, nssv1990283
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesGPHN
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976348
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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