A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207972



Internal ID22356284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:163776443..163776919hg38UCSC Ensembl
chr2:164632953..164633429hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38477
hg19477
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14296654
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207972
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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