A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16909413



Internal ID7060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8893596..8895605hg38UCSC Ensembl
chr2:9033726..9035735hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg382010
hg192010
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5446382
Supporting Variants
Samples
Known GenesMBOAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16909413
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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