A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17478509



Internal ID22536410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47031498..47037292hg38UCSC Ensembl
chr18:44557869..44563663hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg385795
hg195795
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5881876
Supporting Variants
Samples
Known GenesKATNAL2, TCEB3B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17478509
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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