A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17472586



Internal ID22530478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80225553..80229498hg38UCSC Ensembl
chr18:77983436..77987381hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg383946
hg193946
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5878633
Supporting Variants
Samples
Known GenesPARD6G
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17472586
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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