A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414751



Internal ID194019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52031361..52031692hg38UCSC Ensembl
chr1:52497033..52497364hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902764
Samples
Known GenesTXNDC12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414751
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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