A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17547812



Internal ID21872167
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 StatusS
Merged Variantsnsv6061600
Supporting Variants
Samples
Known GenesBHMT
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17547812
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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