A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427609



Internal ID206509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45390387..45390962hg38UCSC Ensembl
chr1:45856059..45856634hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38576
hg19576
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902163
Samples
Known GenesTESK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427609
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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