A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231025



Internal ID22372106
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262589, nssv14262588, nssv14262585, nssv14262587, nssv14262586, nssv14262590, nssv14262592, nssv14262584, nssv14262591
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesADAMTS10, MYO1F
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231025
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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