A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199459



Internal ID22349040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119988363..120089599hg38UCSC Ensembl
chr1:120530986..120632200hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38101237
hg19101215
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14291122, nssv14291124, nssv14291130, nssv14291127, nssv14291128, nssv14291126, nssv14291123, nssv14291129, nssv14291125
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesNOTCH2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199459
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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