A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502465



Internal ID279331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:113582352..113745283hg38UCSC Ensembl
chr10:115342111..115505042hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg38162932
hg19162932
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17039153
Samples
Known GenesCASP7, HABP2, NRAP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502465
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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