A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4748216



Internal ID20524241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:108793772..108793869hg38UCSC Ensembl
chr2:109410228..109410325hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16291483
Samples
Known GenesCCDC138
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4748216
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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