A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230750



Internal ID22372019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133553313..133598528hg38UCSC Ensembl
Outerchr9:136418435..136463650hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg382377
hg192377
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14289680, nssv14289677, nssv14289674, nssv14289681, nssv14289675, nssv14289682, nssv14289676, nssv14289678, nssv14289679
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesADAMTSL2, FAM163B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230750
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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