A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5903163



Internal ID22678328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132413490..132413600hg38UCSC Ensembl
chr5:131749182..131749292hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17415299
Samples
Known GenesC5orf56
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5903163
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