A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269356



Internal ID22274033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:109640831..109687501hg38UCSC Ensembl
Outerchr1:110183453..110230123hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3814401
hg1914401
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225354
Supporting Variants
SamplesNA19239
Known GenesGSTM2, GSTM4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269356
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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