A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17663



Internal ID15839392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:14257292..14258857hg38UCSC Ensembl
Outerchr7:14256197..14259922hg38UCSC Ensembl
Innerchr7:14296917..14298482hg19UCSC Ensembl
Outerchr7:14295822..14299547hg19UCSC Ensembl
Innerchr7:14263442..14265007hg18UCSC Ensembl
Outerchr7:14262347..14266072hg18UCSC Ensembl
Innerchr7:14070157..14071722hg17UCSC Ensembl
Outerchr7:14069062..14072787hg17UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg383726
hg193726
hg183726
hg173726
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8054
Supporting Variants
SamplesNA18972
Known GenesDGKB
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)nssv17663
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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