A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265967



Internal ID22135048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:235077260..235093893hg38UCSC Ensembl
Outerchr1:235242212..235257208hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38906
hg19906
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227710
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265967
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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