A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967070



Internal ID18255613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:138636313..138653531hg38UCSC Ensembl
Innerchr3:138355155..138372373hg19UCSC Ensembl
Innerchr3:139837845..139855063hg18UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg3817219
hg1917219
hg1817219
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2298857, nssv2298852, nssv2298853, nssv2298858, nssv2298854, nssv2298850, nssv2298856, nssv2298855, nssv2298849, nssv2298851
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPIK3CB
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967070
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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