A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981671



Internal ID18270182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76527026..76544535hg38UCSC Ensembl
Innerchr7:76156343..76173852hg19UCSC Ensembl
Innerchr7:75994279..76011788hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3817510
hg1917510
hg1817510
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv82n82
Supporting Variantsnssv2717805, nssv2717812, nssv2717813, nssv2717804, nssv2717806, nssv2717811, nssv2717810, nssv2717808, nssv2717807, nssv2717809
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesUPK3B
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981671
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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