A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478768



Internal ID256314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:78699920..78700514hg38UCSC Ensembl
chr8:79612155..79612749hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg38595
hg19595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17012942
Samples
Known GenesZC2HC1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478768
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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