A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207482



Internal ID22355866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:98689316..98694366hg38UCSC Ensembl
chr1:99154872..99159922hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg385051
hg195051
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14387275
SamplesHG00731
Known GenesSNX7
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207482
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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