A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504072



Internal ID280882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50372532..50372808hg38UCSC Ensembl
chr12:50766315..50766591hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056482
Samples
Known GenesFAM186A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504072
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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