A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14059



Internal ID15836919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:38472217..38472718hg38UCSC Ensembl
Outerchr7:38471194..38474168hg38UCSC Ensembl
Innerchr7:38511817..38512318hg19UCSC Ensembl
Outerchr7:38510794..38513768hg19UCSC Ensembl
Innerchr7:38478342..38478843hg18UCSC Ensembl
Outerchr7:38477319..38480293hg18UCSC Ensembl
Innerchr7:38285057..38285558hg17UCSC Ensembl
Outerchr7:38284034..38287008hg17UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg382975
hg192975
hg182975
hg172975
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8079
Supporting Variants
SamplesNA18572
Known GenesAMPH
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)nssv14059
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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