A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497213



Internal ID274260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:25602789..25615213hg38UCSC Ensembl
chr13:26176927..26189351hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg3812425
hg1912425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686340
Samples
Known GenesATP8A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497213
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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