A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272256



Internal ID22229905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:123859644..123875514hg38UCSC Ensembl
Outerchr3:123578491..123594361hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg386150
hg196150
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220099
Supporting Variants
SamplesHG00733
Known GenesMYLK
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272256
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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