A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5563104



Internal ID336041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45733110..46239402hg38UCSC Ensembl
chr1:46198782..46705074hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38506293
hg19506293
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902174
Samples
Known GenesIPP, LURAP1, MAST2, PIK3R3, POMGNT1, TSPAN1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5563104
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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