A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14375985



Internal ID22125742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:16293213..16328805hg38UCSC Ensembl
chr16:16387070..16422662hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3835593
hg1935593
Variant TypeCNV duplication
Copy Number10
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211755
Supporting Variants
SamplesHG00512
Known GenesLOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, NOMO3, PKD1P1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14375985
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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