A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512324



Internal ID288880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18025858..18029033hg38UCSC Ensembl
chr12:18178792..18181967hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg383176
hg193176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17054444
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512324
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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