A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500151



Internal ID277093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:25512641..25513061hg38UCSC Ensembl
chr13:26086779..26087199hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg38421
hg19421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686336
Samples
Known GenesATP8A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500151
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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