A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033593



Internal ID19122814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:609765..685633hg38UCSC Ensembl
Innerchr5:609880..685748hg19UCSC Ensembl
Innerchr5:662880..738748hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3875869
hg1975869
hg1875869
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3633228
Samples
Known GenesCEP72, LOC100996325, TPPP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1033593
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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