A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201632



Internal ID22350903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:76373916..76409959hg38UCSC Ensembl
Outerchr6:77083633..77119676hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3836044
hg1936044
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276711, nssv14276714, nssv14276712, nssv14276713
SamplesHG00512, HG00732, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201632
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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