A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960468



Internal ID18249033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:35906705..35920915hg38UCSC Ensembl
Innerchr17:34233709..34247919hg19UCSC Ensembl
Innerchr17:31257822..31272032hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3814211
hg1914211
hg1814211
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2092381, nssv2092379, nssv2092382, nssv2092377, nssv2092374, nssv2092375, nssv2092378, nssv2092376, nssv2092380, nssv2092373
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRDM1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960468
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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