A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5559104



Internal ID332148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:85537475..85544042hg38UCSC Ensembl
chr1:86003158..86009725hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg386568
hg196568
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16908200
Samples
Known GenesDDAH1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5559104
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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