A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447930



Internal ID226219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:201011751..201016353hg38UCSC Ensembl
chr1:200980879..200985481hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg384603
hg194603
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894640
Samples
Known GenesKIF21B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447930
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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