A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18313



Internal ID15487043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102544550..102635833hg38UCSC Ensembl
Outerchr7:102543683..102636529hg38UCSC Ensembl
Innerchr7:102184997..102276280hg19UCSC Ensembl
Outerchr7:102184130..102276976hg19UCSC Ensembl
Innerchr7:101972002..102063519hg18UCSC Ensembl
Outerchr7:101971135..102064214hg18UCSC Ensembl
Innerchr7:101778717..101870234hg17UCSC Ensembl
Outerchr7:101777850..101870929hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3892847
hg1992847
hg1893080
hg1793080
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8192
Supporting Variants
SamplesNA18504
Known GenesPOLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B
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)nssv18313
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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