A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228258



Internal ID22370506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39930278..39930709hg38UCSC Ensembl
chr17:38086531..38086962hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38432
hg19432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3557n152
Supporting Variantsnssv14381247, nssv14386990, nssv14380102, nssv14384699
SamplesNA19238, NA19239, HG00732, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228258
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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