A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199456



Internal ID22349037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219573991..219574297hg38UCSC Ensembl
chr2:220438713..220439019hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14296704, nssv14296705
SamplesHG00512, HG00732
Known GenesINHA
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199456
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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