A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6075030



Internal ID21984263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:79697474..79697474hg38UCSC Ensembl
chr6:80407191..80407191hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17565089
Samples
Known GenesSH3BGRL2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6075030
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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