A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17112514



Internal ID21475354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241355546..241355546hg38UCSC Ensembl
chr2:242294961..242294961hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5621917
Supporting Variants
SamplesHG03371
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17112514
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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