A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226668



Internal ID22369388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:8316922..8343602hg38UCSC Ensembl
Outerchr1:8376982..8403662hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38595
hg19595
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267044, nssv14267045
SamplesHG00512, NA19239
Known GenesSLC45A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226668
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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