A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5539146



Internal ID314130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:61235512..61235560hg38UCSC Ensembl
chr1:61701184..61701232hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38166
hg19166
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906040
Samples
Known GenesNFIA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5539146
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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