A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5621917



Internal ID21570222
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 StatusM
Merged Variants
Supporting Variantsnssv17112514, nssv17112515
SamplesNA24385, HG03371
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5621917
Frequency
Sample Size35
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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