A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270696



Internal ID22275900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:214831082..214898244hg38UCSC Ensembl
Outerchr1:215004425..215071587hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg382491
hg192491
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213650
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270696
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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