A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598741



Internal ID16386150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:79028529..79077608hg38UCSC Ensembl
Innerchr5:78324352..78373431hg19UCSC Ensembl
Innerchr5:78360108..78409187hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3849080
hg1949080
hg1849080
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153939
Samples1780862020_A
Known GenesBHMT2, DMGDH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598741
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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