A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277852



Internal ID22183782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:863706..944895hg38UCSC Ensembl
Outerchr7:903343..984531hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3813238
hg1913238
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229292
Supporting Variants
SamplesHG00731
Known GenesADAP1, GET4, SUN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277852
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