A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196328



Internal ID22346360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:167041976..167085041hg38UCSC Ensembl
Outerchr6:167455464..167498529hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3843066
hg1943066
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276029, nssv14276028, nssv14276027
SamplesNA19238, HG00732, HG00733
Known GenesFGFR1OP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196328
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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