A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962799



Internal ID18251355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:41459761..41460351hg38UCSC Ensembl
Innerchr22:41855765..41856355hg19UCSC Ensembl
Innerchr22:40185711..40186301hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38591
hg19591
hg18591
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2269231, nssv2269236, nssv2269234, nssv2269233, nssv2269240, nssv2269232, nssv2269237, nssv2269238, nssv2269239, nssv2269235
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPHF5A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962799
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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