A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4740952



Internal ID20516929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:217432448..217432543hg38UCSC Ensembl
chr2:218297171..218297266hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16272206
Samples
Known GenesDIRC3
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4740952
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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