A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280023



Internal ID22135119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:108163519..108169918hg38UCSC Ensembl
Outerchr7:107803964..107810363hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38800
hg19800
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217833
Supporting Variants
SamplesHG00513
Known GenesNRCAM
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280023
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