A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554220



Internal ID327416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68260507..68264066hg38UCSC Ensembl
chr17:66256648..66260207hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg383560
hg193560
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714211
Samples
Known GenesARSG
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554220
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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