A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979685



Internal ID18614886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44567383..44571917hg38UCSC Ensembl
Innerchr22:44963263..44967797hg19UCSC Ensembl
Innerchr22:43341927..43346461hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg384535
hg194535
hg184535
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2271047, nssv2271054, nssv2271050, nssv2271049, nssv2271046, nssv2271052, nssv2271053, nssv2271045, nssv2271051, nssv2271048
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLINC00207
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979685
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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