A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16919044



Internal ID13461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:147984500..148000847hg38UCSC Ensembl
chr2:148742069..148758416hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg3816348
hg1916348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5450977
Supporting Variants
Samples
Known GenesORC4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16919044
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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