A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500915



Internal ID277835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43829837..43888090hg38UCSC Ensembl
chr12:44223640..44281893hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3858254
hg1958254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055352
Samples
Known GenesTMEM117
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500915
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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