A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5422453



Internal ID201498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20677842..20683681hg38UCSC Ensembl
chr1:21004335..21010174hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg385840
hg195840
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16899381
Samples
Known GenesKIF17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5422453
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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