A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256204



Internal ID22255526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:6402700..6419469hg38UCSC Ensembl
Outerchr12:6511866..6528635hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38655
hg19655
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245876
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256204
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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