A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5568718



Internal ID21517067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233463396..233463514hg38UCSC Ensembl
chr2:234372042..234372160hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17111889
SamplesNA19238
Known GenesDGKD
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5568718
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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