A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14408412



Internal ID22315325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241546311..241546370hg38UCSC Ensembl
chr2:242485726..242485785hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204551
Supporting Variants
SamplesNA19240
Known GenesBOK-AS1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14408412
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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