A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501199



Internal ID278104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:19208106..19710106hg38UCSC Ensembl
chr13:19782246..20284246hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38502001
hg19502001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685857
Samples
Known GenesANKRD26P3, LINC00421, MPHOSPH8, PSPC1, TPTE2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501199
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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