A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4760688



Internal ID20536549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241091479..241091479hg38UCSC Ensembl
chr2:242030894..242030894hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16275067
Samples
Known GenesMTERFD2, SNED1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4760688
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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