A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270652



Internal ID22146839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:55688950..55772549hg38UCSC Ensembl
Outerchr3:55722978..55806577hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg385824
hg195824
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224717
Supporting Variants
SamplesHG00514
Known GenesERC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270652
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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