A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6479435



Internal ID21136988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:22961827..24385019hg38UCSC Ensembl
chr13:23535966..24959157hg19UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg381423193
hg191423192
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1778n223
Supporting Variantsnssv18179507
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)nsv6479435
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer