A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975521



Internal ID18610729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:92878014..92890938hg38UCSC Ensembl
Innerchr12:93271790..93284714hg19UCSC Ensembl
Innerchr12:91795921..91808845hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3812925
hg1912925
hg1812925
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1940695, nssv1940698, nssv1940701, nssv1940700, nssv1940696, nssv1940697, nssv1940703, nssv1940704, nssv1940702, nssv1940699
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesEEA1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975521
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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