A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190790



Internal ID22341601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:33603921..33620169hg38UCSC Ensembl
Outerchr6:33571698..33587946hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3816249
hg1916249
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277120, nssv14277123, nssv14277121, nssv14277122
SamplesHG00512, NA19238, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190790
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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