A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17478519



Internal ID22536420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:48472908..48480175hg38UCSC Ensembl
chr18:45999279..46006546hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg387268
hg197268
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5872416
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17478519
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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