A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17110189



Internal ID21406885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231558288..231558288hg38UCSC Ensembl
chr2:232422999..232422999hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5612555
Supporting Variants
SamplesHG00512
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17110189
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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