A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242543



Internal ID22375312
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2790n152
Supporting Variantsnssv14258990, nssv14258991, nssv14258992, nssv14258994, nssv14258993, nssv14258989
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00513
Known GenesCRIP2, MTA1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242543
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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