A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979686



Internal ID18614887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44901118..44903055hg38UCSC Ensembl
Innerchr22:45296998..45298935hg19UCSC Ensembl
Innerchr22:43675662..43677599hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381938
hg191938
hg181938
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2268882, nssv2268881, nssv2268877, nssv2268876, nssv2268884, nssv2268879, nssv2268878, nssv2268875, nssv2268883, nssv2268880
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPHF21B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979686
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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