A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195567



Internal ID22345725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:3069631..3096792hg38UCSC Ensembl
Outerchr6:3069865..3097026hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg3827162
hg1927162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276389, nssv14276386, nssv14276388, nssv14276387
SamplesHG00512, NA19238, NA19239, NA19240
Known GenesRIPK1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195567
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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