A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255295



Internal ID22311772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:12644069..12657641hg38UCSC Ensembl
Outerchr12:12797003..12810575hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg384296
hg194296
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245143
Supporting Variants
SamplesNA19240
Known GenesCREBL2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255295
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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