A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596853



Internal ID16037576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1308437..1394962hg38UCSC Ensembl
Innerchr5:1308552..1395077hg19UCSC Ensembl
Innerchr5:1361552..1448077hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3886526
hg1986526
hg1886526
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1022145
Samples
Known GenesCLPTM1L, MIR4457, SLC6A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596853
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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