A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960431



Internal ID18595682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18779241..18804104hg38UCSC Ensembl
Innerchr17:18682554..18707417hg19UCSC Ensembl
Innerchr17:18623279..18648142hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3824864
hg1924864
hg1824864
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2081623, nssv2081621, nssv2081622, nssv2081614, nssv2081619, nssv2081617, nssv2081620, nssv2081616, nssv2081618, nssv2081615
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFBXW10, TVP23B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960431
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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