A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260088



Internal ID22133016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3342128..3356126hg38UCSC Ensembl
Outerchr1:3258692..3272690hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38777
hg19777
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222840
Supporting Variants
SamplesHG00513
Known GenesPRDM16
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260088
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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