A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267007



Internal ID22206590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63465172..63501350hg38UCSC Ensembl
Outerchr20:62096525..62132703hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381959
hg191959
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236070
Supporting Variants
SamplesHG00732
Known GenesEEF1A2, KCNQ2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267007
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