A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221417



Internal ID22365813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168496312..168502357hg38UCSC Ensembl
Outerchr6:168896992..168903037hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38896
hg19896
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278268
SamplesNA19238
Known GenesSMOC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221417
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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