A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3583991



Internal ID18535586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:197775024..197837700hg38UCSC Ensembl
Innerchr2:198639748..198702424hg19UCSC Ensembl
Innerchr2:198347993..198410669hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3862677
hg1962677
hg1862677
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009134
Supporting Variants
Samples
Known GenesBOLL, PLCL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3583991
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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