A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966116



Internal ID18254660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50749402..50785866hg38UCSC Ensembl
Innerchr22:51187830..51224294hg19UCSC Ensembl
Innerchr22:49534696..49571160hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3836465
hg1936465
hg1836465
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2272132, nssv2272140, nssv2272134, nssv2272136, nssv2272135, nssv2272133, nssv2272138, nssv2272137, nssv2272139, nssv2272131
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRABL2B, RPL23AP82
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966116
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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