A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513694



Internal ID290210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49557054..49557106hg38UCSC Ensembl
chr12:49950837..49950889hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056903
Samples
Known GenesKCNH3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513694
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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