A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5862001



Internal ID22636936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123069514..123073660hg38UCSC Ensembl
chr8:124081754..124085900hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg384147
hg194147
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17506172
Samples
Known GenesTBC1D31
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5862001
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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