A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204715



Internal ID22353523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:56888181..56897802hg38UCSC Ensembl
Outerchr6:56752979..56762600hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg389622
hg199622
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274984, nssv14274981, nssv14274985, nssv14274983, nssv14274982
SamplesHG00512, NA19238, NA19239, NA19240, HG00514
Known GenesDST
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204715
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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