A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472759



Internal ID250462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:138407538..138412257hg38UCSC Ensembl
chr4:139328692..139333411hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg384720
hg194720
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16957448
Samples
Known GenesLINC00499
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472759
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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