A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424459



Internal ID203450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53778940..53781891hg38UCSC Ensembl
chr1:54244613..54247564hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382952
hg192952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16905020
Samples
Known GenesNDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424459
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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