A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4742905



Internal ID20518890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:235043417..235043520hg38UCSC Ensembl
chr2:235952061..235952164hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16286641
Samples
Known GenesSH3BP4
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4742905
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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