A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5466408



Internal ID244248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:67924347..68150042hg38UCSC Ensembl
chr4:68790065..69015760hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38225696
hg19225696
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16949523
Samples
Known GenesLOC550113, SYT14L, TMPRSS11A, TMPRSS11F, TMPRSS11GP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5466408
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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