A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3746686



Internal ID18698281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179293967..179504309hg38UCSC Ensembl
Innerchr5:178720968..178931310hg19UCSC Ensembl
Innerchr5:178653574..178863916hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38210343
hg19210343
hg18210343
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1024805
Supporting Variants
Samples
Known GenesADAMTS2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3746686
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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