A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4445221



Internal ID22111401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239930754..239930840hg38UCSC Ensembl
chr2:240870171..240870257hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15766438
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=CONTRAC
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4445221
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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