A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4762659



Internal ID20538519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40583175..40583175hg38UCSC Ensembl
chr19:41089081..41089081hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16265518
Samples
Known GenesSHKBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4762659
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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