A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262041



Internal ID22145617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:33181127..33188977hg38UCSC Ensembl
Outerchr1:33646728..33654578hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg381719
hg191719
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210908
Supporting Variants
SamplesHG00514
Known GenesTRIM62
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262041
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