A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968261



Internal ID18603489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:149495603..149496797hg38UCSC Ensembl
Innerchr5:148875166..148876360hg19UCSC Ensembl
Innerchr5:148855359..148856553hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381195
hg191195
hg181195
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2382455, nssv2382451, nssv2382453, nssv2382458, nssv2382457, nssv2382450, nssv2382454, nssv2382452, nssv2382456, nssv2382449
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCSNK1A1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968261
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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