A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5477711



Internal ID255282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:128600747..128601023hg38UCSC Ensembl
chr9:131363026..131363302hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17028814
Samples
Known GenesSPTAN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5477711
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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