A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257597



Internal ID22254233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:21579496..21611050hg38UCSC Ensembl
Outerchr14:22047630..22079207hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3817896
hg1917896
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231799
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257597
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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