A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540902



Internal ID315590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1532735..1532778hg38UCSC Ensembl
chr1:1468115..1468158hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901084
Samples
Known GenesATAD3A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540902
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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