A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439044



Internal ID217592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:155692837..155693693hg38UCSC Ensembl
chr3:155410626..155411482hg19UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg38857
hg19857
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16942197
Samples
Known GenesPLCH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439044
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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