A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598543



Internal ID16385952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70801077..71013034hg38UCSC Ensembl
Innerchr5:70096904..70308861hg19UCSC Ensembl
Innerchr5:70132660..70344617hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38211958
hg19211958
hg18211958
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1034925
Samples
Known GenesNAIP, 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)nsv598543
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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