A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191950



Internal ID22342595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:101861017..101930463hg38UCSC Ensembl
Outerchr6:102308892..102378338hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg3869447
hg1969447
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276777
SamplesHG00513
Known GenesGRIK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191950
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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