A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445714



Internal ID224059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:154528533..156057304hg38UCSC Ensembl
chr3:154246322..155775093hg19UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg381528772
hg191528772
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16940633
Samples
Known GenesC3orf33, GMPS, LOC100507537, MME, PLCH1, SLC33A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445714
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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