A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478614



Internal ID256166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:67789542..67799755hg38UCSC Ensembl
chr10:69549300..69559513hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg3810214
hg1910214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17037357
Samples
Known GenesDNAJC12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478614
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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