A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471813



Internal ID249540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:109919584..109924580hg38UCSC Ensembl
chr4:110840740..110845736hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg384997
hg194997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16954916
Samples
Known GenesEGF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471813
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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