A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511277



Internal ID287868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12739063..12740721hg38UCSC Ensembl
chr12:12891997..12893655hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg381659
hg191659
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053213
Samples
Known GenesAPOLD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511277
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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