A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434001



Internal ID212692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:182310330..182317035hg38UCSC Ensembl
chr2:183175057..183181762hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg386706
hg196706
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922461
Samples
Known GenesPDE1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434001
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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