A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544225



Internal ID318396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50643602..50643639hg38UCSC Ensembl
chr1:51109274..51109311hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902936
Samples
Known GenesFAF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544225
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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