A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960133



Internal ID18248700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:61069256..61070649hg38UCSC Ensembl
Innerchr17:59146617..59148010hg19UCSC Ensembl
Innerchr17:56501399..56502792hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg381394
hg191394
hg181394
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2106056, nssv2106050, nssv2106051, nssv2106057, nssv2106052, nssv2106054, nssv2106049, nssv2106055, nssv2106058, nssv2106053
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesBCAS3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960133
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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