A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598554



Internal ID16385963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70925412..70945098hg38UCSC Ensembl
Innerchr5:70221239..70240925hg19UCSC Ensembl
Innerchr5:70256995..70276681hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3819687
hg1919687
hg1819687
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9858n54
Supporting Variantsnssv1034937
Samples
Known GenesSMN1, SMN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598554
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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