A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14407393



Internal ID22306928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40563590..40563823hg38UCSC Ensembl
chr19:41069496..41069729hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217227
Supporting Variants
SamplesNA19240
Known GenesSPTBN4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14407393
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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