A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17375164



Internal ID22600833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:36055900..36055966hg38UCSC Ensembl
chr18:33635863..33635929hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5932833
Supporting Variants
Samples
Known GenesRPRD1A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17375164
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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