A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5900612



Internal ID22675755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158548494..158548640hg38UCSC Ensembl
chr2:159405006..159405152hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407451
Samples
Known GenesPKP4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5900612
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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