A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255402



Internal ID22255246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:78941305..78965858hg38UCSC Ensembl
Outerchr12:79335085..79359638hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg381869
hg191869
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231606
Supporting Variants
SamplesNA19238
Known GenesSYT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255402
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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