A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249885



Internal ID22377397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:81646323..81655680hg38UCSC Ensembl
Outerchr14:82112667..82122024hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg381168
hg191168
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258971, nssv14258972, nssv14258973, nssv14258969, nssv14258970
SamplesHG00512, NA19239, HG00731, HG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249885
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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