A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598548



Internal ID16385957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70922561..70939712hg38UCSC Ensembl
Innerchr5:70218388..70235539hg19UCSC Ensembl
Innerchr5:70254144..70271295hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3817152
hg1917152
hg1817152
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9858n54
Supporting Variantsnssv1034930
Samples
Known GenesSMN1, SMN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598548
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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