A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213690



Internal ID22360561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:36316505..36385584hg38UCSC Ensembl
Outerchr19:36807407..36876486hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3869080
hg1969080
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263336, nssv14263335, nssv14263338, nssv14263337
SamplesHG00731, HG00732, HG00733, HG00513
Known GenesLINC00665, ZFP14
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213690
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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