A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18282



Internal ID15485834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143757870..143874358hg38UCSC Ensembl
Outerchr7:143757709..143874764hg38UCSC Ensembl
Innerchr7:143454963..143571451hg19UCSC Ensembl
Outerchr7:143454802..143571857hg19UCSC Ensembl
Innerchr7:143085896..143202384hg18UCSC Ensembl
Outerchr7:143085735..143202790hg18UCSC Ensembl
Innerchr7:142892611..143009099hg17UCSC Ensembl
Outerchr7:142892450..143009505hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38117056
hg19117056
hg18117056
hg17117056
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA18502
Known GenesCTAGE6, FAM115A, LOC154761
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)nssv18282
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer