A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17010894



Internal ID74901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48719347..48719961hg38UCSC Ensembl
chr8:49631906..49632520hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38615
hg19615
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5481327
Supporting Variants
Samples
Known GenesEFCAB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17010894
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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