A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204250



Internal ID22353130
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14291180, nssv14291187, nssv14291186, nssv14291185, nssv14291182, nssv14291183, nssv14291184, nssv14291181, nssv14291188
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLOC100288142, LOC101929780, NBPF9, NOTCH2NL, PDE4DIP, SEC22B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204250
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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