A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4752492



Internal ID20528352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46701810..46701810hg38UCSC Ensembl
chr2:46928949..46928949hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16266134
Samples
Known GenesSOCS5
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4752492
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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