A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17399271



Internal ID22457141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201332775..201341868hg38UCSC Ensembl
chr2:202197498..202206591hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg389094
hg199094
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5905198
Supporting Variants
Samples
Known GenesALS2CR12
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17399271
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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