A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446514



Internal ID224837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68473194..68473342hg38UCSC Ensembl
chr2:68700326..68700474hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16915080
Samples
Known GenesAPLF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446514
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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