A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191704



Internal ID22342375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:6603195..6618775hg38UCSC Ensembl
Outerchr3:6644882..6660462hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3815581
hg1915581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271480, nssv14271481
SamplesHG00731, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191704
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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