A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214674



Internal ID22361259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:157437785..157516414hg38UCSC Ensembl
Outerchr7:157230479..157309108hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3878630
hg1978630
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277811, nssv14277812
SamplesHG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214674
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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