A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976112



Internal ID18264633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:46437785..46459416hg38UCSC Ensembl
Innerchr13:47011920..47033551hg19UCSC Ensembl
Innerchr13:45909921..45931552hg18UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3821632
hg1921632
hg1821632
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1963528, nssv1963523, nssv1963529, nssv1963532, nssv1963524, nssv1963526, nssv1963530, nssv1963527, nssv1963525, nssv1963531
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976112
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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