A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960140



Internal ID18248707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:64749454..64758635hg38UCSC Ensembl
Innerchr17:62745572..62754753hg19UCSC Ensembl
Innerchr17:60176034..60185215hg18UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg389182
hg199182
hg189182
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2107920, nssv2107928, nssv2107927, nssv2107923, nssv2107921, nssv2107926, nssv2107925, nssv2107924, nssv2107922, nssv2107929
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC146880
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960140
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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