A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26124



Internal ID15495122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:428268..429006hg38UCSC Ensembl
Outerchr16:427245..429983hg38UCSC Ensembl
Innerchr16:478268..479006hg19UCSC Ensembl
Outerchr16:477245..479983hg19UCSC Ensembl
Innerchr16:418269..419007hg18UCSC Ensembl
Outerchr16:417246..419984hg18UCSC Ensembl
Innerchr16:418269..419007hg17UCSC Ensembl
Outerchr16:417246..419984hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg382739
hg192739
hg182739
hg172739
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9320
Supporting Variants
SamplesNA19132
Known GenesRAB11FIP3
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)nssv26124
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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