A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960518



Internal ID18249083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:62612644..62614259hg38UCSC Ensembl
Innerchr17:60690005..60691620hg19UCSC Ensembl
Innerchr17:58043737..58045352hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg381616
hg191616
hg181616
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2105686, nssv2106379, nssv2105690, nssv2105687, nssv2105691, nssv2105688, nssv2105685, nssv2105689, nssv2106377, nssv2106378
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesTLK2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960518
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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