A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209465



Internal ID22357540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:35630328..35716988hg38UCSC Ensembl
Outerchr6:35598105..35684765hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3886661
hg1986661
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274954, nssv14274960, nssv14274959, nssv14274956, nssv14274958, nssv14274961, nssv14274957, nssv14274955
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesFKBP5, MIR5690
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209465
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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