A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17478481



Internal ID22536382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:44743226..44745685hg38UCSC Ensembl
chr18:42323191..42325650hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg382460
hg192460
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5887243
Supporting Variants
Samples
Known GenesSETBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17478481
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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