A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3595245



Internal ID18546840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46790548..46831502hg38UCSC Ensembl
Innerchr3:46832038..46872992hg19UCSC Ensembl
Innerchr3:46807042..46847996hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3840955
hg1940955
hg1840955
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1012097
Supporting Variants
Samples
Known GenesPRSS42
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3595245
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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