A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17111395



Internal ID21424488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201766722..201766722hg38UCSC Ensembl
chr2:202631445..202631445hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5607150
Supporting Variants
SamplesHG00731
Known GenesALS2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17111395
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer