A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27114



Internal ID15839758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:59951649..59952565hg38UCSC Ensembl
Outerchr17:59951073..59953156hg38UCSC Ensembl
Innerchr17:58029010..58029926hg19UCSC Ensembl
Outerchr17:58028434..58030517hg19UCSC Ensembl
Innerchr17:55383792..55384708hg18UCSC Ensembl
Outerchr17:55383216..55385299hg18UCSC Ensembl
Innerchr17:55383792..55384708hg17UCSC Ensembl
Outerchr17:55383216..55385299hg17UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg382084
hg192084
hg182084
hg172084
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9577
Supporting Variants
SamplesNA18972
Known GenesRNFT1
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)nssv27114
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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