A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199814



Internal ID22349351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:77711738..77734737hg38UCSC Ensembl
Outerchr6:78421455..78444454hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3823000
hg1923000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275512
SamplesNA19238
Known GenesMEI4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199814
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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