A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204029



Internal ID22352943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:194641599..194698611hg38UCSC Ensembl
Outerchr3:194362328..194419340hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3857013
hg1957013
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271302, nssv14271303
SamplesHG00512, NA19238
Known GenesFAM43A, LSG1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204029
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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