A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6048809



Internal ID21958044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:108468855..108468855hg38UCSC Ensembl
chr2:109085311..109085311hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17529218
Samples
Known GenesGCC2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6048809
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