A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267687



Internal ID22273251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:47710287..47747723hg38UCSC Ensembl
Outerchr1:48175959..48213395hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg381154
hg191154
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222593
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267687
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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