A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960419



Internal ID18595670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:15567339..15590834hg38UCSC Ensembl
Innerchr17:15470653..15494148hg19UCSC Ensembl
Innerchr17:15411378..15434873hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3823496
hg1923496
hg1823496
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2078338, nssv2078333, nssv2078335, nssv2078330, nssv2078331, nssv2078337, nssv2078332, nssv2078334, nssv2078336, nssv2078329
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)nsv960419
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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