A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983381



Internal ID18271889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31104100..31106526hg38UCSC Ensembl
Innerchr12:31257034..31259460hg19UCSC Ensembl
Innerchr12:31148301..31150727hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg382427
hg192427
hg182427
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2619059, nssv2619064, nssv2619065, nssv2619058, nssv2619063, nssv2619060, nssv2619057, nssv2619062, nssv2619066, nssv2619061
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesDDX11
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983381
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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