A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977238



Internal ID18265758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:50171622..50173774hg38UCSC Ensembl
Innerchr13:50745758..50747910hg19UCSC Ensembl
Innerchr13:49643759..49645911hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382153
hg192153
hg182153
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1963871, nssv1963874, nssv1963869, nssv1963875, nssv1963877, nssv1963873, nssv1963876, nssv1963868, nssv1963870, nssv1963872
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesST13P4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977238
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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