A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5541335



Internal ID315955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52645425..52645447hg38UCSC Ensembl
chr1:53111097..53111119hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16903197
Samples
Known GenesFAM159A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5541335
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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