A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209370



Internal ID22357460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194396538..194401409hg38UCSC Ensembl
chr3:194117267..194122138hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg384872
hg194872
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6318n152
Supporting Variantsnssv14410311
SamplesNA19240
Known GenesGP5
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209370
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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