A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596629



Internal ID16037352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:457146..1468172hg38UCSC Ensembl
Innerchr5:457261..1468287hg19UCSC Ensembl
Innerchr5:510261..1521287hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381011027
hg191011027
hg181011027
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1021072
Samples
Known GenesBRD9, CEP72, CLPTM1L, EXOC3, LOC100506688, LOC100996325, LPCAT1, MIR4456, MIR4457, MIR4635, NKD2, PP7080, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, TERT, TPPP, TRIP13, ZDHHC11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596629
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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