A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228719



Internal ID22370811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:196807116..196848329hg38UCSC Ensembl
Outerchr1:196776246..196817459hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg382118
hg192118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264716
SamplesNA19238
Known GenesCFHR1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228719
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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