A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4449521



Internal ID22115698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:2055105..2055177hg38UCSC Ensembl
chr8:2003223..2003295hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15763158
Samples
Known GenesMYOM2
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4449521
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