A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966109



Internal ID18601339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:37830280..37832157hg38UCSC Ensembl
Innerchr22:38226287..38228164hg19UCSC Ensembl
Innerchr22:36556233..36558110hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381878
hg191878
hg181878
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2266431, nssv2266429, nssv2266435, nssv2266428, nssv2266427, nssv2266430, nssv2266433, nssv2266434, nssv2266436, nssv2266432
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANKRD54
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966109
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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