A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261173



Internal ID22256806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:27523870..27533412hg38UCSC Ensembl
Outerchr1:27850381..27859923hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38788
hg19788
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221894
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261173
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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