A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236657



Internal ID22373654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:29553873..29567974hg38UCSC Ensembl
Outerchr13:30128010..30142111hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg381296
hg191296
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257518, nssv14257520, nssv14257519
SamplesNA19239, HG00513, HG00514
Known GenesSLC7A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236657
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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