A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6053438



Internal ID21962671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171861204..171861204hg38UCSC Ensembl
chr2:172717714..172717714hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17534685
Samples
Known GenesSLC25A12
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6053438
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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