A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504008



Internal ID280818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:103259906..103261442hg38UCSC Ensembl
chr12:103653684..103655220hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg381537
hg191537
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690454
Samples
Known GenesC12orf42
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504008
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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