A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211720



Internal ID22359190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:41542772..41567714hg38UCSC Ensembl
Outerchr1:42008443..42033385hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270496, nssv14270495, nssv14270494
SamplesHG00512, NA19240, HG00733
Known GenesHIVEP3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211720
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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