A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970542



Internal ID18259078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76520224..76544535hg38UCSC Ensembl
Innerchr7:76149541..76173852hg19UCSC Ensembl
Innerchr7:75987477..76011788hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3824312
hg1924312
hg1824312
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv82n82
Supporting Variantsnssv2464717, nssv2464709, nssv2464716, nssv2464718, nssv2464714, nssv2464715, nssv2464711, nssv2464712, nssv2464713, nssv2464710
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesUPK3B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970542
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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