A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6091106



Internal ID22000339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53753846..53753846hg38UCSC Ensembl
chr12:54147630..54147630hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17598557
Samples
Known GenesCISTR-ACT
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6091106
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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