A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416101



Internal ID195339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89010289..89019455hg38UCSC Ensembl
chr1:89475972..89485138hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg389167
hg199167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16905573
Samples
Known GenesGBP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416101
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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