A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14291184



Internal ID22201553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120578894..120802318hg38UCSC Ensembl
chr1:144952389..145290134hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38223425
hg19337746
Variant TypeCNV duplication
Copy Number8
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204250
Supporting Variants
SamplesHG00732
Known GenesLOC100288142, LOC101929780, NBPF9, NOTCH2NL, PDE4DIP, SEC22B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14291184
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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