A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6042918



Internal ID21952230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42611291..42611291hg38UCSC Ensembl
chr2:42838431..42838431hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg382370
hg192370
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17527724
Samples
Known GenesMTA3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6042918
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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