A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263726



Internal ID22120336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:45802988..45827192hg38UCSC Ensembl
Outerchr19:46306246..46330450hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241650
Supporting Variants
SamplesHG00512
Known GenesRSPH6A, SYMPK
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263726
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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