A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262586



Internal ID22145686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8565174..8656697hg38UCSC Ensembl
Outerchr19:8630058..8766230hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg387384
hg197384
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231025
Supporting Variants
SamplesHG00514
Known GenesADAMTS10, MYO1F
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262586
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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