A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6078270



Internal ID21987503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134556626..134556626hg38UCSC Ensembl
chr5:133892316..133892316hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17543434
Samples
Known GenesJADE2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6078270
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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