A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960117



Internal ID18595370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:47180431..47183348hg38UCSC Ensembl
Innerchr17:45257797..45260714hg19UCSC Ensembl
Innerchr17:42612796..42615713hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg382918
hg192918
hg182918
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2100428, nssv2100432, nssv2100429, nssv2100434, nssv2100431, nssv2100427, nssv2100430, nssv2100435, nssv2100433, nssv2100436
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCDC27
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960117
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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