A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1778n223



Internal ID22804746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:22913821..24385019hg38UCSC Ensembl
chr13:23487960..24959157hg19UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg381471199
hg191471198
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6477720, nsv6482232, nsv6479435, nsv6482287, nsv6486081
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)dgv1778n223
Frequency
Sample Size19652
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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