A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17010469



Internal ID74601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:49871216..49871912hg38UCSC Ensembl
chr8:50783776..50784472hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38697
hg19697
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5488690
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17010469
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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