A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499808



Internal ID276763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116181097..116181689hg38UCSC Ensembl
chr12:116618902..116619494hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38593
hg19593
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684677
Samples
Known GenesMED13L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499808
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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