A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198944



Internal ID22348607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:125861438..125880386hg38UCSC Ensembl
Outerchr6:126182584..126201532hg19UCSC Ensembl
Cytoband6q22.32
Allele length
AssemblyAllele length
hg3818949
hg1918949
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275629, nssv14275626, nssv14275627, nssv14275628
SamplesNA19238, NA19239, HG00732, NA19240
Known GenesNCOA7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198944
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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