A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200644



Internal ID22350062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202264920..202265207hg38UCSC Ensembl
chr2:203129643..203129930hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38288
hg19288
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14296933
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200644
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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