A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414379



Internal ID193662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51313213..51317505hg38UCSC Ensembl
chr1:51778885..51783177hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg384293
hg194293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902987
Samples
Known GenesTTC39A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414379
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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