A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962778



Internal ID18251334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:24764926..24766772hg38UCSC Ensembl
Innerchr22:25160893..25162739hg19UCSC Ensembl
Innerchr22:23490893..23492739hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg381847
hg191847
hg181847
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2261451, nssv2261448, nssv2261454, nssv2261447, nssv2261456, nssv2261455, nssv2261453, nssv2261450, nssv2261452, nssv2261449
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPIWIL3, TOP1P2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962778
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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