A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5900265



Internal ID22675405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158348989..158360112hg38UCSC Ensembl
chr2:159205501..159216624hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3811124
hg1911124
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1242n209
Supporting Variantsnssv17400282
Samples
Known GenesCCDC148
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5900265
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