A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4440130



Internal ID22106308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184235668..184235668hg38UCSC Ensembl
chr3:183953456..183953456hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38517
hg19517
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15767512
Samples
Known GenesVWA5B2
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4440130
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer