A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255929



Internal ID22131604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:65412908..65429915hg38UCSC Ensembl
Outerchr12:65806688..65823695hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38689
hg19689
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230931
Supporting Variants
SamplesHG00513
Known GenesMSRB3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255929
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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