A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419666



Internal ID198795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44751559..44752220hg38UCSC Ensembl
chr1:45217231..45217892hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38662
hg19662
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904864
Samples
Known GenesKIF2C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419666
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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