A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238601



Internal ID22374205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:92115200..92153338hg38UCSC Ensembl
Outerchr14:92581544..92619682hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg383127
hg193127
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259024
SamplesHG00512
Known GenesCPSF2, NDUFB1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238601
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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