A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554442



Internal ID327629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:81444123..81444174hg38UCSC Ensembl
chr14:81910467..81910518hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38881
hg19881
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699034
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554442
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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