A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978



Internal ID15495899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:150034755..150042037hg38UCSC Ensembl
Outerchr7:150033879..150043264hg38UCSC Ensembl
Innerchr7:149731844..149739126hg19UCSC Ensembl
Outerchr7:149730968..149740353hg19UCSC Ensembl
Innerchr7:149362777..149370059hg18UCSC Ensembl
Outerchr7:149361901..149371286hg18UCSC Ensembl
Innerchr7:149169492..149176774hg17UCSC Ensembl
Outerchr7:149168616..149178001hg17UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg389386
hg199386
hg189386
hg179386
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8229
Supporting Variants
SamplesNA19144
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)nssv16978
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