A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033597



Internal ID18776130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178996100..179325094hg38UCSC Ensembl
Innerchr5:178423101..178752095hg19UCSC Ensembl
Innerchr5:178355707..178684701hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38328995
hg19328995
hg18328995
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3746684
Samples
Known GenesADAMTS2, ZNF354C, ZNF879
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1033597
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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