A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213146



Internal ID22360181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:144844400..144872641hg38UCSC Ensembl
Outerchr2:91681359..91721311hg19UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg3829359
hg1929359
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270603, nssv14270602, nssv14270604
SamplesHG00512, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213146
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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