A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196169



Internal ID22346228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:48989832..49086366hg38UCSC Ensembl
Outerchr6:48957469..49054002hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3896535
hg1996534
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274819
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196169
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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