A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5545643



Internal ID319664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17114628..17114628hg38UCSC Ensembl
chr1:17441123..17441123hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16899790
Samples
Known GenesPADI2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5545643
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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