A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198391



Internal ID22348120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:124766911..124833479hg38UCSC Ensembl
Outerchr6:125088057..125154625hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3866569
hg1966569
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275609, nssv14275610
SamplesNA19238, HG00732
Known GenesNKAIN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198391
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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