A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260761



Internal ID22119348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:6733676..6769871hg38UCSC Ensembl
Outerchr1:6793736..6829931hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg381821
hg191821
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229159
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260761
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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