A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5608123



Internal ID21556428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113948973..113948973hg38UCSC Ensembl
chr2:114706550..114706550hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg383946
hg193946
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17108071
SamplesHG00512
Known GenesACTR3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5608123
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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