A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419082



Internal ID198230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:113755952..113757040hg38UCSC Ensembl
chr1:114298574..114299662hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381089
hg191089
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889592
Samples
Known GenesPHTF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419082
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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