A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598435



Internal ID16385844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69538215..69551572hg38UCSC Ensembl
Innerchr5:68834042..68847399hg19UCSC Ensembl
Innerchr5:68869798..68883155hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3813358
hg1913358
hg1813358
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9835n54
Supporting Variantsnssv1034663, nssv1034662, nssv1034664, nssv1034665
Samples
Known GenesLOC647859, OCLN, SMA4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598435
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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