A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966099



Internal ID18254643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29359737..29366183hg38UCSC Ensembl
Innerchr22:29755726..29762172hg19UCSC Ensembl
Innerchr22:28085726..28092172hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg386447
hg196447
hg186447
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2263089, nssv2263090, nssv2263095, nssv2263094, nssv2263088, nssv2263096, nssv2263092, nssv2263097, nssv2263093, nssv2263091
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesAP1B1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966099
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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