A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555654



Internal ID328806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66321579..66326305hg38UCSC Ensembl
chr12:66715359..66720085hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg384727
hg194727
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688716
Samples
Known GenesHELB
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555654
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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