A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440195



Internal ID218711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225057693..225081839hg38UCSC Ensembl
chr1:225245395..225269541hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3824147
hg1924147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897260
Samples
Known GenesDNAH14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440195
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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