A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232526



Internal ID22372527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:29492179..29501011hg38UCSC Ensembl
Outerchr19:29983086..29991918hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38565
hg19565
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263778
SamplesHG00731
Known GenesLOC284395
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232526
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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