A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195202



Internal ID22345418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:72149277..72182627hg38UCSC Ensembl
Outerchr6:72858980..72892330hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3833351
hg1933351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276707, nssv14276709, nssv14276710, nssv14276708
SamplesHG00512, HG00731, HG00733, HG00514
Known GenesRIMS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195202
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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