A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263308



Internal ID22120168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:101252669..101256294hg38UCSC Ensembl
Outerchr1:101718225..101721850hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38628
hg19628
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219361
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263308
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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