A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446699



Internal ID225020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151428524..151428823hg38UCSC Ensembl
chr3:151146312..151146611hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16940603
Samples
Known GenesMED12L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446699
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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