A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255313



Internal ID22255211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:18871675..18878721hg38UCSC Ensembl
Outerchr12:19024609..19031655hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38666
hg19666
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240377
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255313
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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