A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16919088



Internal ID13491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148665607..148665979hg38UCSC Ensembl
chr2:149423176..149423548hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg38373
hg19373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5444060
Supporting Variants
Samples
Known GenesEPC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16919088
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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