A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228639



Internal ID22370758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:32981082..32995412hg38UCSC Ensembl
Outerchr1:33446683..33461013hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg381511
hg191511
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262016, nssv14262015, nssv14262878, nssv14262879, nssv14262880, nssv14262881, nssv14262877
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228639
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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