A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557357



Internal ID330456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104052903..104055223hg38UCSC Ensembl
chr12:104446681..104449001hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg382321
hg192321
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690499
Samples
Known Genes
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557357
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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