A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271969



Internal ID22189384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:167983370..168005924hg38UCSC Ensembl
Outerchr3:167701158..167723712hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg381265
hg191265
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226209
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271969
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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