A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18177250



Internal ID20744290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45376601..45382800hg38UCSC Ensembl
chr13:45950736..45956935hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg386200
hg196200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6495161
Supporting Variants
Samples
Known GenesTPT1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18177250
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00855


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