A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5607599



Internal ID21555904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130926048..130926048hg38UCSC Ensembl
chr2:131683621..131683621hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17108512
SamplesHG03371
Known GenesARHGEF4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5607599
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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