A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202935



Internal ID22352027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139378301..139383300hg38UCSC Ensembl
chr5:138713990..138718989hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg385000
hg195000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7539n152
Supporting Variantsnssv14410695
SamplesNA19240
Known GenesSLC23A1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202935
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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