A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207171



Internal ID22355603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:158235801..158250389hg38UCSC Ensembl
Outerchr6:158656833..158671421hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg3814589
hg1914589
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276739, nssv14276738, nssv14276740
SamplesHG00512, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207171
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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