A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1034856



Internal ID15541356
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 StatusS
Merged Variantsnsv598483
Supporting Variants
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)nssv1034856
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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