A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14409544



Internal ID22312167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248557062..248649010hg38UCSC Ensembl
chr1:248720363..248812311hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3891949
hg1991949
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209428
Supporting Variants
SamplesNA19240
Known GenesOR2T10, OR2T11, OR2T29, OR2T34, OR2T35
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14409544
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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