A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263727



Internal ID22120348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47264935..47265919hg38UCSC Ensembl
Outerchr19:47768192..47769176hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38648
hg19648
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246131
Supporting Variants
SamplesHG00512
Known GenesCCDC9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263727
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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