A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500279



Internal ID277219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66092229..66158163hg38UCSC Ensembl
chr12:66486009..66551943hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3865935
hg1965935
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688703
Samples
Known GenesLLPH, TMBIM4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500279
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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