A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980631



Internal ID18615831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:34068069..34080495hg38UCSC Ensembl
Innerchr5:34068174..34080600hg19UCSC Ensembl
Innerchr5:34103931..34116357hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3812427
hg1912427
hg1812427
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2352936, nssv2352942, nssv2352939, nssv2352941, nssv2352935, nssv2352938, nssv2352933, nssv2352940, nssv2352934, nssv2352937
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesC1QTNF3-AMACR
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980631
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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