A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5966185



Internal ID22741121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:16389306..16389306hg38UCSC Ensembl
chr6:16389537..16389537hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17428653
Samples
Known GenesATXN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5966185
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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