A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218950



Internal ID22364124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247357413..247363998hg38UCSC Ensembl
Outerchr1:247520715..247527300hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg382438
hg192438
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266348, nssv14266350, nssv14266346, nssv14266349, nssv14266345, nssv14266351, nssv14266347, nssv14276308
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218950
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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