A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5897454



Internal ID22672557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201221824..201490725hg38UCSC Ensembl
chr2:202086547..202355448hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38268902
hg19268902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17409557
Samples
Known GenesALS2CR11, ALS2CR12, CASP10, CASP8, STRADB, TRAK2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5897454
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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