A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505836



Internal ID282600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20904144..21381667hg38UCSC Ensembl
chr12:21057078..21534601hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38477524
hg19477524
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv100n206
Supporting Variantsnssv17053932
Samples
Known GenesIAPP, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1B7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505836
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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