A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259024



Internal ID22118808
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238601
Supporting Variants
SamplesHG00512
Known GenesCPSF2, NDUFB1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259024
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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