A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205045



Internal ID22353801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:176927923..176939632hg38UCSC Ensembl
Outerchr4:177849077..177860786hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg3811710
hg1911710
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274470, nssv14274471
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205045
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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