A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14432503



Internal ID22175371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:1864701..1868250hg38UCSC Ensembl
chr2:1868473..1872022hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg383550
hg193550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198789
Supporting Variants
SamplesHG00514
Known GenesMYT1L
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14432503
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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