A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241650



Internal ID22375026
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263726
SamplesHG00512
Known GenesRSPH6A, SYMPK
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241650
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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