A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5559333



Internal ID332370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:148482120..148485880hg38UCSC Ensembl
chr6:148803256..148807016hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg383761
hg193761
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16989305
Samples
Known GenesSASH1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5559333
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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