A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5487100



Internal ID264447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:62391112..62395582hg38UCSC Ensembl
chr8:63303671..63308141hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg384471
hg194471
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011764
Samples
Known GenesNKAIN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5487100
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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