A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255316



Internal ID22252967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:19905133..19941154hg38UCSC Ensembl
Outerchr12:20058067..20094088hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3842530
hg1942530
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242167
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255316
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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