A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14453066



Internal ID22247885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11538610..11538662hg38UCSC Ensembl
chr2:11678736..11678788hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3280222
Supporting Variants
SamplesHG00733
Known GenesGREB1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14453066
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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