A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255938



Internal ID22270867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:74600856..74632021hg38UCSC Ensembl
Outerchr12:74994636..75025801hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38907
hg19907
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230738
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255938
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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