A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207857



Internal ID22356192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:178582901..178677656hg38UCSC Ensembl
Outerchr3:178300689..178395444hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg3894756
hg1994756
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271138, nssv14271139
SamplesHG00731, HG00513
Known GenesKCNMB2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207857
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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