A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245844



Internal ID22376260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105461495..105480272hg38UCSC Ensembl
Outerchr14:105927832..105946609hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg383406
hg193406
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2790n152
Supporting Variantsnssv14258020, nssv14258022, nssv14258021
SamplesNA19238, NA19239, HG00733
Known GenesCRIP2, MTA1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245844
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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