A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280106



Internal ID22199304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:158583682..158604500hg38UCSC Ensembl
Outerchr7:158376374..158397192hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3831112
hg1931112
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229764
Supporting Variants
SamplesHG00732
Known GenesMIR5707, PTPRN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280106
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