A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4757775



Internal ID20533635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241015631..241015631hg38UCSC Ensembl
chr2:241955048..241955048hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16284393
Samples
Known GenesSNED1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4757775
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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