A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14440



Internal ID15485013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44021068..44024455hg38UCSC Ensembl
Outerchr7:44019725..44024523hg38UCSC Ensembl
Innerchr7:44060667..44064054hg19UCSC Ensembl
Outerchr7:44059324..44064122hg19UCSC Ensembl
Innerchr7:44027192..44030579hg18UCSC Ensembl
Outerchr7:44025849..44030647hg18UCSC Ensembl
Innerchr7:43833907..43837294hg17UCSC Ensembl
Outerchr7:43832564..43837362hg17UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg384799
hg194799
hg184799
hg174799
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8082
Supporting Variants
SamplesNA12802
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)nssv14440
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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