A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257855



Internal ID22132268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:88677468..88719499hg38UCSC Ensembl
Outerchr14:89143812..89185843hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg382143
hg192143
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244429
Supporting Variants
SamplesHG00513
Known GenesEML5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257855
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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