A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501097



Internal ID278008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:96032847..96034168hg38UCSC Ensembl
chr12:96426625..96427946hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg381322
hg191322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690079
Samples
Known GenesLTA4H
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501097
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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