A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5952875



Internal ID22728179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201309925..201309925hg38UCSC Ensembl
chr2:202174648..202174648hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38218
hg19218
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17406128
Samples
Known GenesALS2CR12
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5952875
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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