A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454611



Internal ID232708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69034894..69035154hg38UCSC Ensembl
chr5:68330721..68330981hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16967363
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454611
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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