A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5616198



Internal ID21564503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26975632..26975632hg38UCSC Ensembl
chr2:27198500..27198500hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17112868
SamplesHG02587
Known GenesMAPRE3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5616198
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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