A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5465781



Internal ID243634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125213112..125266516hg38UCSC Ensembl
chr6:125534258..125587662hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3853405
hg1953405
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969043
Samples
Known GenesTPD52L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5465781
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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