A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4740229



Internal ID20516204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125006429..125006496hg38UCSC Ensembl
chr8:126018671..126018738hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16266539
Samples
Known GenesSQLE
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4740229
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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