A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198893



Internal ID22348561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:1314399..1321954hg38UCSC Ensembl
Outerchr6:1314634..1322189hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg387556
hg197556
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276385, nssv14276383, nssv14276384
SamplesNA19238, NA19239, NA19240
Known GenesFOXQ1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198893
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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