A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024805



Internal ID18767336
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 StatusM
Merged Variantsdgv5847n100
Supporting Variantsnssv3746686
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)nsv1024805
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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