A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17011212



Internal ID75122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30590979..30593737hg38UCSC Ensembl
chr8:30448496..30451254hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg382759
hg192759
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5484960
Supporting Variants
Samples
Known GenesGTF2E2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17011212
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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