A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597752



Internal ID16385161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:29254467..29327804hg38UCSC Ensembl
Innerchr5:29254574..29327911hg19UCSC Ensembl
Innerchr5:29290331..29363668hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3873338
hg1973338
hg1873338
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153311
Samples1782681024_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597752
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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