A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5617996



Internal ID21566301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112950856..112950856hg38UCSC Ensembl
chr2:113708433..113708433hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17107547
SamplesHG00864
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5617996
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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