A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6095679



Internal ID22004912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21482028..21482028hg38UCSC Ensembl
chr12:21634962..21634962hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17617177
Samples
Known GenesRECQL
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6095679
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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