A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983548



Internal ID18618741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:19171886..19221146hg38UCSC Ensembl
Innerchr13:19746026..19795286hg19UCSC Ensembl
Innerchr13:18644026..18693286hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg3849261
hg1949261
hg1849261
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1950983, nssv1950986, nssv1950979, nssv1950977, nssv1950985, nssv1950981, nssv1950980, nssv1950984, nssv1950978, nssv1950982
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTUBA3C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983548
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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