A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454803



Internal ID232897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184212885..185009149hg38UCSC Ensembl
chr4:185134038..185930303hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38796265
hg19796266
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16960678
Samples
Known GenesACSL1, CASP3, CENPU, ENPP6, IRF2, LINC01093, LOC728175, LOC731424, MIR3945, PRIMPOL, SLED1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454803
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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