A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207097



Internal ID22355545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11789789..11789892hg38UCSC Ensembl
chr2:11929915..11930018hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14287687, nssv14287685, nssv14287688, nssv14287689, nssv14287686
SamplesHG00731, HG00732, NA19240, HG00733, HG00514
Known GenesLPIN1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207097
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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