A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17108349



Internal ID21478050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:12520389..12520389hg38UCSC Ensembl
chr2:12660515..12660515hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5623701
Supporting Variants
SamplesHG03486
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17108349
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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