A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27082



Internal ID15487276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45547062..45551249hg38UCSC Ensembl
Outerchr17:45546639..45551837hg38UCSC Ensembl
Innerchr17:43624428..43628615hg19UCSC Ensembl
Outerchr17:43624005..43629203hg19UCSC Ensembl
Innerchr17:40980211..40984398hg18UCSC Ensembl
Outerchr17:40979788..40984986hg18UCSC Ensembl
Innerchr17:40980211..40984398hg17UCSC Ensembl
Outerchr17:40979788..40984986hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg385199
hg195199
hg185199
hg175199
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9563
Supporting Variants
SamplesNA18517
Known Genes
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv27082
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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