A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420649



Internal ID199747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:100171243..100171294hg38UCSC Ensembl
chr13:100823497..100823548hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17692635
Samples
Known GenesPCCA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420649
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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