A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4763938



Internal ID20539798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:104947157..104947157hg38UCSC Ensembl
chr2:105563615..105563615hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16296266
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4763938
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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