A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983353



Internal ID18618547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:93409500..93411232hg38UCSC Ensembl
Innerchr12:93803276..93805008hg19UCSC Ensembl
Innerchr12:92327407..92329139hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381733
hg191733
hg181733
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1941098, nssv1941102, nssv1941095, nssv1941101, nssv1941100, nssv1941096, nssv1941104, nssv1941103, nssv1941097, nssv1941099
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesUBE2N
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983353
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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