A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459905



Internal ID15519970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:46098159..46145351hg38UCSC Ensembl
Innerchr22:46494039..46541227hg19UCSC Ensembl
Innerchr22:44872703..44919891hg18UCSC Ensembl
Innerchr22:44814558..44861746hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3847193
hg1947189
hg1847189
hg1747189
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536562
Samples1780862014_A
Known GenesMIR4763, MIRLET7A3, MIRLET7B, MIRLET7BHG
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)nsv459905
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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