A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482479



Internal ID259936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:30034493..30043476hg38UCSC Ensembl
chr10:30323422..30332405hg19UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg388984
hg198984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17033514
Samples
Known GenesKIAA1462
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482479
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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