A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960523



Internal ID18595774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:65998593..66001971hg38UCSC Ensembl
Innerchr17:63994711..63998089hg19UCSC Ensembl
Innerchr17:61425173..61428551hg18UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg383379
hg193379
hg183379
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2107023, nssv2107026, nssv2107021, nssv2107025, nssv2107027, nssv2107022, nssv2107029, nssv2107028, nssv2107024, nssv2107020
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCEP112
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960523
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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