A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16917246



Internal ID12241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110047618..110274704hg38UCSC Ensembl
chr2:110805195..111032281hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38227087
hg19227087
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5444675
Supporting Variants
Samples
Known GenesLINC00116, LOC100507334, MALL, MIR4267, MIR4436B1, MIR4436B2, NPHP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16917246
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.005153


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