A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508288



Internal ID284983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43587147..43600041hg38UCSC Ensembl
chr12:43980950..43993844hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3812895
hg1912895
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056711
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508288
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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