A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198099



Internal ID22347875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176451699..176451811hg38UCSC Ensembl
chr2:177316427..177316539hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14296294, nssv14296293
SamplesHG00732, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198099
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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