A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246610



Internal ID22376464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1136571..1203281hg38UCSC Ensembl
Outerchr19:1136570..1203280hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg386226
hg196226
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263975, nssv14263976, nssv14263971, nssv14263973, nssv14263977, nssv14263970, nssv14263974, nssv14263972
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSBNO2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246610
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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