A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1034898



Internal ID15888084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70077264..70079610hg38UCSC Ensembl
Innerchr5:69373091..69375437hg19UCSC Ensembl
Innerchr5:69408847..69411193hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg382347
hg192347
hg182347
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv598518
Supporting Variants
Samples
Known GenesSMA4, SMN1, SMN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1034898
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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