A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257931



Internal ID22265084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:95575650..95585252hg38UCSC Ensembl
Outerchr14:96041987..96051589hg19UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg38969
hg19969
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238659
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257931
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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