A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5832582



Internal ID22607517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240808883..240841711hg38UCSC Ensembl
chr2:241748300..241781128hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3832829
hg1932829
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17483443
Samples
Known GenesKIF1A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5832582
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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