A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263674



Internal ID22120294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47853326..47961739hg38UCSC Ensembl
Outerchr19:48356583..48464996hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38123930
hg19123930
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239558
Supporting Variants
SamplesHG00512
Known GenesSNAR-A1, SNAR-A10, SNAR-A11, SNAR-A12, SNAR-A13, SNAR-A14, SNAR-A2, SNAR-A3, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-C1, SNAR-C2, SNAR-C3, SNAR-C4, SNAR-C5, SULT2A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263674
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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