A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258993



Internal ID22271944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105463578..105478963hg38UCSC Ensembl
Outerchr14:105929915..105945300hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg381561
hg191561
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242543
Supporting Variants
SamplesNA19239
Known GenesCRIP2, MTA1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258993
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