A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980683



Internal ID18615883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:73020215..73020901hg38UCSC Ensembl
Innerchr5:72316042..72316728hg19UCSC Ensembl
Innerchr5:72351798..72352484hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38687
hg19687
hg18687
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2362931, nssv2362926, nssv2362930, nssv2362932, nssv2362928, nssv2362934, nssv2362925, nssv2362929, nssv2362933, nssv2362927
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFCHO2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980683
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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