A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18194323



Internal ID20761363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:22936588..24359721hg38UCSC Ensembl
chr13:23510727..24933859hg19UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg381423134
hg191423133
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6477720
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)nssv18194323
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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