A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6078305



Internal ID21987538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8294667..8294667hg38UCSC Ensembl
chr4:8296394..8296394hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381010
hg191010
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17550599, nssv17545438
Samples
Known GenesHTRA3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6078305
Frequency
Sample Size405
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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