A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255945



Internal ID22304717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:90084661..90098202hg38UCSC Ensembl
Outerchr12:90478438..90491979hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg381250
hg191250
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245754
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255945
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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