A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598437



Internal ID16385846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69538215..69554768hg38UCSC Ensembl
Innerchr5:68834042..68850595hg19UCSC Ensembl
Innerchr5:68869798..68886351hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3816554
hg1916554
hg1816554
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9836n54
Supporting Variantsnssv1034669, nssv1034672, nssv1034671, nssv1034668, nssv1034670, nssv1034667
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)nsv598437
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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