A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17110936



Internal ID21473090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189665622..189665622hg38UCSC Ensembl
chr2:190530348..190530348hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5606314
Supporting Variants
SamplesHG03371
Known GenesASNSD1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17110936
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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