A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6096918



Internal ID22006151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27961301..27961301hg38UCSC Ensembl
chr12:28114234..28114234hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17610247
Samples
Known GenesPTHLH
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6096918
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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