A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5614604



Internal ID21562909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27749220..27749220hg38UCSC Ensembl
chr2:27972087..27972087hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17114084
SamplesHG00732
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5614604
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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