A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216815



Internal ID22362682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:19766275..19791971hg38UCSC Ensembl
Outerchr1:20092768..20118464hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg381416
hg191416
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274714, nssv14274715
SamplesHG00732, HG00733
Known GenesTMCO4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216815
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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