A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192427



Internal ID22343014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:152030195..152078179hg38UCSC Ensembl
Outerchr6:152351330..152399314hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3847985
hg1947985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275989, nssv14275992, nssv14275991, nssv14275990
SamplesNA19238, HG00732, NA19240, HG00733
Known GenesESR1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192427
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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