A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5892404



Internal ID22667454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158393075..158393759hg38UCSC Ensembl
chr2:159249587..159250271hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38685
hg19685
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17393835
Samples
Known GenesCCDC148
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5892404
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