A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5950278



Internal ID22725684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201766722..201766722hg38UCSC Ensembl
chr2:202631445..202631445hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407811
Samples
Known GenesALS2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5950278
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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