A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14455856



Internal ID22250205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11112786..11112849hg38UCSC Ensembl
chr2:11252912..11252975hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204421
Supporting Variants
SamplesHG00733
Known GenesFLJ33534
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14455856
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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