A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977225



Internal ID18612431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:36064873..36066328hg38UCSC Ensembl
Innerchr13:36639010..36640465hg19UCSC Ensembl
Innerchr13:35537010..35538465hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg381456
hg191456
hg181456
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1960476, nssv1960473, nssv1960470, nssv1960472, nssv1960477, nssv1960469, nssv1960471, nssv1960478, nssv1960474, nssv1960475
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDCLK1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977225
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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