A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6041804



Internal ID21951134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238870256..238870256hg38UCSC Ensembl
chr2:239778897..239778897hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17537512
Samples
Known GenesTWIST2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6041804
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer