A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279487



Internal ID22122741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:74822393..74923963hg38UCSC Ensembl
Outerchr7:74236921..74338970hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38858
hg19858
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227223
Supporting Variants
SamplesHG00512
Known GenesGTF2IRD2, PMS2P5, STAG3L2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279487
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