A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960647



Internal ID18595894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:5221541..5233164hg38UCSC Ensembl
Innerchr18:5221540..5233163hg19UCSC Ensembl
Innerchr18:5211540..5223163hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3811624
hg1911624
hg1811624
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2115425, nssv2115429, nssv2115426, nssv2115428, nssv2115424, nssv2115423, nssv2115422, nssv2115430, nssv2115421, nssv2115427
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960647
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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