A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16839



Internal ID15484678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102593435..102608494hg38UCSC Ensembl
Outerchr7:102592924..102608666hg38UCSC Ensembl
Innerchr7:102233882..102248941hg19UCSC Ensembl
Outerchr7:102233371..102249113hg19UCSC Ensembl
Innerchr7:102020951..102036004hg18UCSC Ensembl
Outerchr7:102020440..102036176hg18UCSC Ensembl
Innerchr7:101827666..101842719hg17UCSC Ensembl
Outerchr7:101827155..101842891hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3815743
hg1915743
hg1815737
hg1715737
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8192
Supporting Variants
SamplesNA12740
Known GenesPOLR2J3, RASA4, RASA4B
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)nssv16839
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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