A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17401311



Internal ID22459181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80137758..80219154hg38UCSC Ensembl
chr18:77895641..77977037hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3881397
hg1981397
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5941240
Supporting Variants
Samples
Known GenesADNP2, PARD6G, PARD6G-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17401311
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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