A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17111889



Internal ID21494963
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 StatusS
Merged Variantsnsv5568718
Supporting Variants
SamplesNA19238
Known GenesDGKD
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17111889
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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