A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964093



Internal ID18599331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:123024438..123026347hg38UCSC Ensembl
Innerchr4:123945593..123947502hg19UCSC Ensembl
Innerchr4:124165043..124166952hg18UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg381910
hg191910
hg181910
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2335217, nssv2335209, nssv2335216, nssv2335212, nssv2335218, nssv2335214, nssv2335211, nssv2335215, nssv2335213, nssv2335210
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSPATA5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964093
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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