A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14410695



Internal ID22289289
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 StatusS
Merged Variantsnsv3202935
Supporting Variants
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)nssv14410695
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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