A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556847



Internal ID329972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116819070..116819903hg38UCSC Ensembl
chr12:117256875..117257708hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38834
hg19834
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684713
Samples
Known GenesRNFT2
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556847
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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