A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9850n54



Internal ID22777745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:70077264..70079610hg38UCSC Ensembl
chr5:69373091..69375437hg19UCSC Ensembl
chr5:69408847..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 StatusM
Merged Variants
Supporting Variantsnsv598518, nsv598517
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)dgv9850n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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