A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17152884



Internal ID21475737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:16562451..16562451hg38UCSC Ensembl
chr6:16562682..16562682hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5636403
Supporting Variants
SamplesHG03486
Known GenesATXN1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17152884
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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