A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497704



Internal ID274729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50392137..50399649hg38UCSC Ensembl
chr12:50785920..50793432hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg387513
hg197513
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056487
Samples
Known GenesFAM186A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497704
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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