A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196111



Internal ID22346179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32793615..32814976hg38UCSC Ensembl
Outerchr6:32761392..32782753hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3821362
hg1921362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277115, nssv14277114
SamplesHG00512, NA19238
Known GenesHLA-DOB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196111
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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