A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17406128



Internal ID22463998
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 StatusS
Merged Variantsnsv5952875
Supporting Variants
Samples
Known GenesALS2CR12
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17406128
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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