A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554634



Internal ID327813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108320077..108322553hg38UCSC Ensembl
chr12:108713854..108716330hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg382477
hg192477
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684301
Samples
Known GenesCMKLR1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554634
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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