A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600164



Internal ID16387573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:159589694..159668671hg38UCSC Ensembl
Innerchr5:159016701..159095678hg19UCSC Ensembl
Innerchr5:158949279..159028256hg18UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3878978
hg1978978
hg1878978
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1044634
Samples
Known GenesMIR548D2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600164
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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