A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1034897



Internal ID15888083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70077264..70079158hg38UCSC Ensembl
Innerchr5:69373091..69374985hg19UCSC Ensembl
Innerchr5:69408847..69410741hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381895
hg191895
hg181895
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv598517
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)nssv1034897
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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