A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980733



Internal ID18615933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140723815..140732851hg38UCSC Ensembl
Innerchr5:140103400..140112436hg19UCSC Ensembl
Innerchr5:140083584..140092620hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg389037
hg199037
hg189037
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2377954, nssv2377960, nssv2377962, nssv2377961, nssv2377958, nssv2377957, nssv2377955, nssv2377959, nssv2377956, nssv2377963
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesVTRNA1-3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980733
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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