A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511296



Internal ID287886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132788487..132880163hg38UCSC Ensembl
chr12:133365073..133456749hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3891677
hg1991677
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685734
Samples
Known GenesCHFR, GOLGA3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511296
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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