A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267232



Internal ID22146371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2430554..2445861hg38UCSC Ensembl
Outerchr1:2361993..2377300hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg381361
hg191361
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212922
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267232
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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