A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203641



Internal ID22352615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230602001..230602487hg38UCSC Ensembl
chr2:231466716..231467202hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38487
hg19487
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14298305
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203641
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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