A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500002



Internal ID276953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42206549..42207831hg38UCSC Ensembl
chr12:42600351..42601633hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381283
hg191283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055257
Samples
Known GenesYAF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500002
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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