A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962359



Internal ID18250917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:62615090..62615841hg38UCSC Ensembl
Innerchr17:60692451..60693202hg19UCSC Ensembl
Innerchr17:58046183..58046934hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38752
hg19752
hg18752
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2106476, nssv2106472, nssv2106473, nssv2106474, nssv2106468, nssv2106469, nssv2106470, nssv2106471, nssv2106475, nssv2106467
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTLK2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962359
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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