A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17110496



Internal ID21401670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180407553..180407553hg38UCSC Ensembl
chr2:181272280..181272280hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38350
hg19350
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5619007
Supporting Variants
SamplesHG00096
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17110496
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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