A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16923255



Internal ID16262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190422954..190427341hg38UCSC Ensembl
chr2:191287680..191292067hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg384388
hg194388
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5441738
Supporting Variants
Samples
Known GenesMFSD6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16923255
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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