A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5476648



Internal ID254253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28774227..28774303hg38UCSC Ensembl
chr8:28631744..28631820hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011118
Samples
Known GenesINTS9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5476648
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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