A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6055047



Internal ID21964280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189665606..189665606hg38UCSC Ensembl
chr2:190530332..190530332hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17526904
Samples
Known GenesASNSD1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6055047
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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