A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5830317



Internal ID22605252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41049727..41053851hg38UCSC Ensembl
chr1:41515399..41519523hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg384125
hg194125
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17458290
Samples
Known GenesSCMH1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5830317
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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