A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237890



Internal ID22373997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:32607348..32625877hg38UCSC Ensembl
Outerchr19:33098254..33116783hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38454
hg19454
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263717
SamplesHG00512
Known GenesANKRD27
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237890
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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