A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505993



Internal ID282751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66362372..66363211hg38UCSC Ensembl
chr12:66756152..66756991hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38840
hg19840
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688718
Samples
Known GenesGRIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505993
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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