A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17478507



Internal ID22536408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47022976..47043592hg38UCSC Ensembl
chr18:44549424..44569963hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3820617
hg1920540
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5875322
Supporting Variants
Samples
Known GenesKATNAL2, TCEB3B, TCEB3C, TCEB3CL, TCEB3CL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17478507
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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