A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223034



Internal ID22366922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:5798716..5853024hg38UCSC Ensembl
Outerchr1:5858776..5913084hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg382071
hg192071
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260710, nssv14260712, nssv14260714, nssv14260711, nssv14260713, nssv14260715, nssv14260709
SamplesNA19238, 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)nsv3223034
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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