A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17010121



Internal ID74383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28022195..28022484hg38UCSC Ensembl
chr8:27879712..27880001hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5491362
Supporting Variants
Samples
Known GenesNUGGC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17010121
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002966


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