A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960138



Internal ID18595391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:64656332..64674766hg38UCSC Ensembl
Innerchr17:62652450..62670884hg19UCSC Ensembl
Innerchr17:60082912..60101346hg18UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg3818435
hg1918435
hg1818435
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2106938, nssv2106936, nssv2106934, nssv2106943, nssv2106942, nssv2106937, nssv2106939, nssv2106935, nssv2106940, nssv2106941
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSMURF2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960138
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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