A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249350



Internal ID22377249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137268199..137388827hg38UCSC Ensembl
Outerchr9:140162651..140283279hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3811756
hg1911756
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280755, nssv14280753, nssv14280756, nssv14280758, nssv14280759, nssv14280751, nssv14280757, nssv14280754, nssv14280752
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesEXD3, NELFB, NRARP, TOR4A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249350
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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