A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277413



Internal ID22192610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:83414175..83423744hg38UCSC Ensembl
Outerchr7:83043491..83053060hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg389570
hg199570
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214662
Supporting Variants
SamplesHG00731
Known GenesSEMA3E
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277413
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