A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191200



Internal ID22341938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:48363416..48406767hg38UCSC Ensembl
Outerchr6:48331152..48374503hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3843352
hg1943352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274818
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191200
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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