A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428878



Internal ID207736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108806065..108806939hg38UCSC Ensembl
chr1:109348687..109349561hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38875
hg19875
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16907987
Samples
Known GenesSTXBP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428878
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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