A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960420



Internal ID18595671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:15592189..15623755hg38UCSC Ensembl
Innerchr17:15495503..15527069hg19UCSC Ensembl
Innerchr17:15436228..15467794hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3831567
hg1931567
hg1831567
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2078400, nssv2078404, nssv2078401, nssv2078407, nssv2078403, nssv2078399, nssv2078406, nssv2078402, nssv2078408, nssv2078405
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCDRT1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960420
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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