A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272775



Internal ID22138589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:206045271..206062579hg38UCSC Ensembl
Outerchr1:206278792..206296097hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg382646
hg192646
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225104
Supporting Variants
SamplesHG00513
Known GenesC1orf186
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272775
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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