A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262015



Internal ID22280351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:32981082..32995412hg38UCSC Ensembl
Outerchr1:33446683..33461013hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg381511
hg191511
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228639
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262015
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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