A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3592299



Internal ID18543894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:48919982..49560398hg38UCSC Ensembl
Innerchr22:49315794..49954046hg19UCSC Ensembl
Innerchr22:47701798..48340050hg18UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38640417
hg19638253
hg18638253
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1061293
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3592299
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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