A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17111387



Internal ID21473960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201339055..201339055hg38UCSC Ensembl
chr2:202203778..202203778hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5607661
Supporting Variants
SamplesHG03371
Known GenesALS2CR12
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17111387
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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