A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17371467



Internal ID22597136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47031525..47048196hg38UCSC Ensembl
chr18:44557896..44574567hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3816672
hg1916672
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5946924
Supporting Variants
Samples
Known GenesKATNAL2, TCEB3B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17371467
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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