A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6061600



Internal ID21970833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79130726..79130726hg38UCSC Ensembl
chr5:78426549..78426549hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg382364
hg192364
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17547812
Samples
Known GenesBHMT
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6061600
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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