A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598483



Internal ID16039206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69958474..70409783hg38UCSC Ensembl
Innerchr5:69254301..69705610hg19UCSC Ensembl
Innerchr5:69290057..69741366hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38451310
hg19451310
hg18451310
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9844n54
Supporting Variantsnssv1034856
Samples
Known GenesGUSBP9, SERF1A, SERF1B, SMA4, SMN1, SMN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598483
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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