A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4756368



Internal ID20532228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:83060037..83060037hg38UCSC Ensembl
chr5:82355856..82355856hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg383279
hg193279
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16267275
Samples
Known GenesTMEM167A
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4756368
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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