A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203170



Internal ID22352231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114225225..114225364hg38UCSC Ensembl
chr1:114767847..114767986hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv386n152
Supporting Variantsnssv14286537, nssv14286536
SamplesHG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203170
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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