A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221154



Internal ID22365636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:206912570..206927499hg38UCSC Ensembl
Outerchr1:207085915..207100844hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381498
hg191498
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270080, nssv14270079
SamplesHG00512, NA19239
Known GenesFAIM3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221154
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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