A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193004



Internal ID22343508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:64626189..64657456hg38UCSC Ensembl
Outerchr6:65336082..65367349hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3831268
hg1931268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276763
SamplesHG00513
Known GenesEYS
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193004
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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