A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902157



Internal ID2233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45330022..45330022hg38UCSC Ensembl
chr1:45795694..45795694hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5543396
Supporting Variants
Samples
Known GenesMUTYH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902157
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.416345


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