A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18150



Internal ID15497251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:5248756..5321186hg38UCSC Ensembl
Outerchr7:5218322..5378342hg38UCSC Ensembl
Innerchr7:5288387..5360817hg19UCSC Ensembl
Outerchr7:5257953..5417973hg19UCSC Ensembl
Innerchr7:5254913..5327343hg18UCSC Ensembl
Outerchr7:5224479..5384499hg18UCSC Ensembl
Innerchr7:5061628..5134058hg17UCSC Ensembl
Outerchr7:5031194..5191214hg17UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38160021
hg19160021
hg18160021
hg17160021
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8034
Supporting Variants
SamplesNA19221
Known GenesSLC29A4, TNRC18, WIPI2
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)nssv18150
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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