A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3592327



Internal ID18543922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:48999043..49608907hg38UCSC Ensembl
Innerchr22:49394855..50002555hg19UCSC Ensembl
Innerchr22:47780859..48388559hg18UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38609865
hg19607701
hg18607701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1063017
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)nssv3592327
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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