A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192237



Internal ID22342849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:5548972..5549089hg38UCSC Ensembl
chr2:5689104..5689221hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14289582
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192237
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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