A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4753311



Internal ID20529171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47325026..47325026hg38UCSC Ensembl
chr17:45402392..45402392hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16272778
Samples
Known GenesEFCAB13
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4753311
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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