A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493019



Internal ID270212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:37800188..37800256hg38UCSC Ensembl
chr10:38089116..38089184hg19UCSC Ensembl
Cytoband10p11.1
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17031666
Samples
Known GenesZNF248
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493019
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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