A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18192551



Internal ID20759591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:22913821..24328083hg38UCSC Ensembl
chr13:23487960..24902221hg19UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg381414263
hg191414262
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6482287
Supporting Variants
Samples
Known GenesANKRD20A19P, C1QTNF9, C1QTNF9B, C1QTNF9B-AS1, LINC00327, MIPEP, MIR2276, SACS, SACS-AS1, SGCG, SPATA13, SPATA13-AS1, TNFRSF19
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18192551
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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