A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418877



Internal ID198033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9259168..9344062hg38UCSC Ensembl
chr1:9319227..9404121hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3884895
hg1984895
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8n206
Supporting Variantsnssv16890199
Samples
Known GenesH6PD, SPSB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418877
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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