A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206791



Internal ID22355279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:38132705..38146216hg38UCSC Ensembl
Outerchr1:38598377..38611888hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3813512
hg1913512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256679
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206791
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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