A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5927619



Internal ID22702848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:22933611..24355837hg38UCSC Ensembl
chr13:23507750..24929975hg19UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg381422227
hg191422226
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv519n209
Supporting Variantsnssv17375906
Samples
Known GenesANKRD20A19P, C1QTNF9, C1QTNF9B, C1QTNF9B-AS1, LINC00327, MIPEP, MIR2276, SACS, SACS-AS1, SGCG, SPATA13, SPATA13-AS1, TNFRSF19
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5927619
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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