A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597819



Internal ID16385228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:36445356..36472888hg38UCSC Ensembl
Innerchr5:36445458..36472990hg19UCSC Ensembl
Innerchr5:36481215..36508747hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3827533
hg1927533
hg1827533
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1028956
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597819
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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