A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3637050



Internal ID18588645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:33520482..33546096hg38UCSC Ensembl
Innerchr5:33520587..33546201hg19UCSC Ensembl
Innerchr5:33556344..33581958hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3825615
hg1925615
hg1825615
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1025906
Supporting Variants
Samples
Known GenesADAMTS12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3637050
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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