A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6082471



Internal ID21991704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70395152..70395152hg38UCSC Ensembl
chr12:70788932..70788932hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17612110
Samples
Known GenesKCNMB4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6082471
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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