A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3649301



Internal ID18600896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179293967..179498830hg38UCSC Ensembl
Innerchr5:178720968..178925831hg19UCSC Ensembl
Innerchr5:178653574..178858437hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38204864
hg19204864
hg18204864
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1022321
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)nssv3649301
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer