A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5906252



Internal ID22681450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151230799..151234922hg38UCSC Ensembl
chr3:150948587..150952710hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg384124
hg194124
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17421458
Samples
Known GenesMED12L, P2RY14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5906252
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer