A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508618



Internal ID285306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55720621..55720723hg38UCSC Ensembl
chr12:56114405..56114507hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056634
Samples
Known GenesBLOC1S1-RDH5, RDH5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508618
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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