A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421245



Internal ID200328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40734633..40738153hg38UCSC Ensembl
chr1:41200305..41203825hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg383521
hg193521
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904803
Samples
Known GenesNFYC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421245
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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