A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5613953



Internal ID21562258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:128038334..128038334hg38UCSC Ensembl
chr2:128795908..128795908hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17108472
SamplesHG02011
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5613953
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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