A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17111750



Internal ID21494945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232905920..232906144hg38UCSC Ensembl
chr2:233770630..233770854hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5573398
Supporting Variants
SamplesNA19238
Known GenesNGEF
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17111750
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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