A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204601



Internal ID22353426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:189501128..189501196hg38UCSC Ensembl
chr3:189218917..189218985hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6305n152
Supporting Variantsnssv14435366
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204601
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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