A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446097



Internal ID224426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31198377..31198629hg38UCSC Ensembl
chr2:31421243..31421495hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910462
Samples
Known GenesCAPN14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446097
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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