A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512787



Internal ID289333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92986537..92986677hg38UCSC Ensembl
chr12:93380313..93380453hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690036
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512787
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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