A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030667



Internal ID18773198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:33530240..33554758hg38UCSC Ensembl
Innerchr5:33530345..33554863hg19UCSC Ensembl
Innerchr5:33566102..33590620hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3824519
hg1924519
hg1824519
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3637052
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)nsv1030667
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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