A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4745419



Internal ID20521427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241108969..241109049hg38UCSC Ensembl
chr2:242048384..242048464hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16280846
Samples
Known GenesPASK
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4745419
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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