A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5485307



Internal ID262700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:17969293..17969347hg38UCSC Ensembl
chr10:18258222..18258276hg19UCSC Ensembl
Cytoband10p12.33
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17032545
Samples
Known GenesSLC39A12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5485307
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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