A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256178



Internal ID22253727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:4632873..4646311hg38UCSC Ensembl
Outerchr12:4742039..4755477hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg383036
hg193036
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236250
Supporting Variants
SamplesNA19238
Known GenesAKAP3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256178
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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