A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964615



Internal ID18599852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25650787..25651905hg38UCSC Ensembl
Innerchr22:26046754..26047872hg19UCSC Ensembl
Innerchr22:24376754..24377872hg18UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg381119
hg191119
hg181119
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2263639, nssv2263643, nssv2263646, nssv2263637, nssv2263638, nssv2263645, nssv2263640, nssv2263641, nssv2263644, nssv2263642
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesADRBK2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964615
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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