A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5463753



Internal ID241644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40677690..40779043hg38UCSC Ensembl
chr4:40679707..40781060hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38101354
hg19101354
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16948924
Samples
Known GenesNSUN7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5463753
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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