A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192624



Internal ID22343178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:133874623..133882791hg38UCSC Ensembl
Outerchr6:134195761..134203929hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg388169
hg198169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276728
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192624
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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