A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271499



Internal ID22123199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:70775730..70806327hg38UCSC Ensembl
Outerchr1:71241413..71272010hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg384462
hg194462
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222750
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271499
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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