A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261397



Internal ID22119588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:18038332..18069156hg38UCSC Ensembl
Outerchr1:18364826..18395650hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg384881
hg194881
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218780
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261397
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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