A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5415122



Internal ID194383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65381835..65389917hg38UCSC Ensembl
chr1:65847518..65855600hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg388083
hg198083
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906089
Samples
Known GenesDNAJC6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5415122
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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