A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266458



Internal ID22121244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3582180..3594027hg38UCSC Ensembl
Outerchr1:3498744..3510591hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg381412
hg191412
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211573
Supporting Variants
SamplesHG00512
Known GenesMEGF6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266458
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