A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507635



Internal ID284349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:22700106..24442106hg38UCSC Ensembl
chr13:23274245..25016244hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg381742001
hg191742000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686112
Samples
Known GenesANKRD20A19P, BASP1P1, C1QTNF9, C1QTNF9B, C1QTNF9B-AS1, LINC00327, MIPEP, MIR2276, PARP4, SACS, SACS-AS1, SGCG, SPATA13, SPATA13-AS1, TNFRSF19
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507635
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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