A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220850



Internal ID22365430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:143510958..143532283hg38UCSC Ensembl
Outerchr1:148823157..148841971hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3827124
hg1927124
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271774
SamplesHG00512
Known GenesLOC101929780
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220850
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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