A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17409557



Internal ID22467427
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 StatusS
Merged Variantsnsv5897454
Supporting Variants
Samples
Known GenesALS2CR11, ALS2CR12, CASP10, CASP8, STRADB, TRAK2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17409557
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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