A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14304688



Internal ID22126049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:12123090..12132055hg38UCSC Ensembl
chr3:12164590..12173555hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg388966
hg198966
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199551
Supporting Variants
SamplesHG00512
Known GenesSYN2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14304688
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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