A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264751



Internal ID22120622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:45310655..45326827hg38UCSC Ensembl
Outerchr19:45813913..45830085hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38793
hg19793
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231692
Supporting Variants
SamplesHG00512
Known GenesCKM
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264751
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