A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215452



Internal ID22361786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:6248823..6272453hg38UCSC Ensembl
Outerchr6:6249056..6272686hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg381309
hg191309
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278344
SamplesNA19239
Known GenesF13A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215452
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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