A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5887980



Internal ID22662980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:16420671..16421662hg38UCSC Ensembl
chr6:16420902..16421893hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38992
hg19992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17416735
Samples
Known GenesATXN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5887980
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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