A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212742



Internal ID22359902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:2656602..2670449hg38UCSC Ensembl
Outerchr17:2559896..2573743hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3813848
hg1913848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260008
SamplesNA19238
Known GenesPAFAH1B1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212742
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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