A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220736



Internal ID22365346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:22736620..22756227hg38UCSC Ensembl
Outerchr1:23063113..23082720hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381068
hg191068
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271742
SamplesHG00512
Known GenesEPHB2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220736
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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