A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271302



Internal ID22122255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:194641599..194698611hg38UCSC Ensembl
Outerchr3:194362328..194419340hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3857013
hg1957013
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204029
Supporting Variants
SamplesHG00512
Known GenesFAM43A, LSG1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271302
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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