A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4767956



Internal ID20543816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177554489..177554489hg38UCSC Ensembl
chr5:176981490..176981490hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16259341
Samples
Known GenesFAM193B
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4767956
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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