A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6086537



Internal ID21995770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49249440..49249440hg38UCSC Ensembl
chr12:49643223..49643223hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg382593
hg192593
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17599231
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6086537
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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