A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202554



Internal ID22351703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:111575368..111597705hg38UCSC Ensembl
Outerchr6:111896571..111918908hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3822338
hg1922338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274844
SamplesHG00732
Known GenesTRAF3IP2, TRAF3IP2-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202554
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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