A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6086759



Internal ID21995992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11028744..11028744hg38UCSC Ensembl
chr12:11181343..11181343hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17600268
Samples
Known GenesPRH1-PRR4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6086759
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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