A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4763749



Internal ID20539609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174395660..174395660hg38UCSC Ensembl
chr2:175260388..175260388hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16279689
Samples
Known GenesCIR1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4763749
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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