A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2690861



Internal ID17784059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50792336..50792836hg38UCSC Ensembl
Innerchr22:51230764..51231264hg19UCSC Ensembl
Innerchr22:49577630..49578130hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979728
Supporting Variants
SamplesHGDP00665
Known GenesRPL23AP82
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2690861
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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