A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17395197



Internal ID22453067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:38034552..38037159hg38UCSC Ensembl
chr20:36662954..36665561hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg382608
hg192608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5949882
Supporting Variants
Samples
Known GenesRPRD1B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17395197
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