A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1034931



Internal ID15888117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70922561..70941301hg38UCSC Ensembl
Innerchr5:70218388..70237128hg19UCSC Ensembl
Innerchr5:70254144..70272884hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3818741
hg1918741
hg1818741
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv598549
Supporting Variants
Samples
Known GenesSMN1, SMN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1034931
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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