A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261032



Internal ID22119452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8165826..8185839hg38UCSC Ensembl
Outerchr17:8069144..8089157hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381334
hg191334
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240700
Supporting Variants
SamplesHG00512
Known GenesTMEM107
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261032
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