A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8072



Internal ID15845984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:29629528..29749416hg38UCSC Ensembl
Outerchr7:29669144..29789032hg19UCSC Ensembl
Outerchr7:29635669..29755557hg18UCSC Ensembl
Outerchr7:29442384..29562272hg17UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38119889
hg19119889
hg18119889
hg17119889
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16059, nssv17203, nssv16119, nssv15556
SamplesNA18504, NA12740, NA18552
Known GenesDPY19L2P3, LOC646762, MIR550A3, ZNRF2P2
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)nsv8072
Frequency
Sample Size31
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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