A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195856



Internal ID22345968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:5019678..5059628hg38UCSC Ensembl
Outerchr6:5019912..5059862hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg3839951
hg1939951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276395, nssv14276399, nssv14276393, nssv14276398, nssv14276400, nssv14276397, nssv14276394, nssv14276396
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195856
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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