A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979667



Internal ID18268182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29441318..29441937hg38UCSC Ensembl
Innerchr22:29837307..29837926hg19UCSC Ensembl
Innerchr22:28167307..28167926hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38620
hg19620
hg18620
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2264195, nssv2264190, nssv2264188, nssv2264197, nssv2264191, nssv2264192, nssv2264196, nssv2264193, nssv2264189, nssv2264194
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRFPL1, RFPL1S
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979667
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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