A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274751



Internal ID22198336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:34783395..34791953hg38UCSC Ensembl
Outerchr1:35248996..35257554hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3810925
hg1910925
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229635
Supporting Variants
SamplesHG00732
Known GenesGJB3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274751
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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