A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983851



Internal ID18272357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:91332706..91334911hg38UCSC Ensembl
Innerchr14:91799050..91801255hg19UCSC Ensembl
Innerchr14:90868803..90871008hg18UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg382206
hg192206
hg182206
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1995316, nssv1995320, nssv1995318, nssv1995321, nssv1995319, nssv1995322, nssv1995324, nssv1995315, nssv1995317, nssv1995323
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCCDC88C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983851
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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