A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17108595



Internal ID21488669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143071842..143071842hg38UCSC Ensembl
chr2:143829411..143829411hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5620451
Supporting Variants
SamplesNA18939
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17108595
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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