A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434448



Internal ID213123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211380302..211384355hg38UCSC Ensembl
chr1:211553644..211557697hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg384054
hg194054
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895052
Samples
Known GenesLINC00467
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434448
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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