A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3600816



Internal ID18552411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:32383091..32419347hg38UCSC Ensembl
Innerchr22:32779078..32815334hg19UCSC Ensembl
Innerchr22:31109078..31145334hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3836257
hg1936257
hg1836257
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1066118
Supporting Variants
Samples
Known GenesBPIFC, LOC339666, RTCB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3600816
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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