A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271504



Internal ID22186998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:108640677..108666128hg38UCSC Ensembl
Outerchr3:108359524..108384975hg19UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg3825452
hg1925452
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199278
Supporting Variants
SamplesHG00731
Known GenesDZIP3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271504
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