A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431538



Internal ID210313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160162831..160162917hg38UCSC Ensembl
chr1:160132621..160132707hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891360
Samples
Known GenesATP1A4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5431538
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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