A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960498



Internal ID18595749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:47141368..47159653hg38UCSC Ensembl
Innerchr17:45218734..45237019hg19UCSC Ensembl
Innerchr17:42573733..42592018hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3818286
hg1918286
hg1818286
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2098818, nssv2098824, nssv2098823, nssv2098822, nssv2100391, nssv2098819, nssv2098825, nssv2098821, nssv2098820, nssv2100390
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)nsv960498
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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