A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263227



Internal ID22145775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:118311229..118339205hg38UCSC Ensembl
Outerchr1:118853852..118881828hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg381003
hg191003
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221054
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263227
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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