A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222047



Internal ID22366246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:26520001..26523846hg38UCSC Ensembl
Outerchr1:26846492..26850337hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38784
hg19784
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261097, nssv14261098
SamplesHG00512, NA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222047
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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