A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6041069



Internal ID21950405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135824337..135824337hg38UCSC Ensembl
chr2:136581907..136581907hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17536425
Samples
Known GenesLCT
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6041069
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