A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226974



Internal ID22369603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:17955192..17956745hg38UCSC Ensembl
Outerchr1:18281686..18283239hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38697
hg19697
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274701
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226974
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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