A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16903197



Internal ID2951
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 StatusS
Merged Variantsnsv5541335
Supporting Variants
Samples
Known GenesFAM159A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16903197
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.196822


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