A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5549748



Internal ID323373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39373631..39373661hg38UCSC Ensembl
chr4:39375251..39375281hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17735080
Samples
Known GenesMIR1273H
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5549748
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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