A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462216



Internal ID15175595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:79028529..79077608hg38UCSC Ensembl
Innerchr5:78324352..78373431hg19UCSC Ensembl
Innerchr5:78360108..78409187hg18UCSC Ensembl
Innerchr5:78360108..78409187hg17UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3849080
hg1949080
hg1849080
hg1749080
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538433
Samples1780862020_A
Known GenesBHMT2, DMGDH
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv462216
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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