A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963775



Internal ID18252329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:219249827..219251406hg38UCSC Ensembl
Innerchr2:220114549..220116128hg19UCSC Ensembl
Innerchr2:219822793..219824372hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381580
hg191580
hg181580
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2222580, nssv2222582, nssv2222584, nssv2222577, nssv2222585, nssv2222576, nssv2222583, nssv2222578, nssv2222579, nssv2222581
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSTK16, TUBA4A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963775
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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