A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv483009



Internal ID15235483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:42829470..43006887hg38UCSC Ensembl
Innerchr17:40981487..41158904hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38177418
hg19177418
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996410
Samples
Known GenesAARSD1, AOC2, AOC3, AOC4P, G6PC, IFI35, LINC00671, PSME3, PTGES3L, PTGES3L-AARSD1, RPL27, RUNDC1
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nsv483009
Frequency
Sample Size39
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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