A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973136



Internal ID18608351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130312739..130316331hg38UCSC Ensembl
Innerchr12:130797284..130800876hg19UCSC Ensembl
Innerchr12:129363237..129366829hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg383593
hg193593
hg183593
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1947592, nssv1947594, nssv1947589, nssv1947588, nssv1947593, nssv1947595, nssv1947596, nssv1947590, nssv1947591, nssv1947587
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)nsv973136
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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