A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271515



Internal ID22152127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:83132834..83162513hg38UCSC Ensembl
Outerchr1:83598517..83628196hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381599
hg191599
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211906
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271515
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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