A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4757619



Internal ID20533479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223347729..223347729hg38UCSC Ensembl
chr1:223521071..223521071hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381656
hg191656
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16287557
Samples
Known GenesSUSD4
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4757619
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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