A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19004



Internal ID15487807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102634112..102634589hg38UCSC Ensembl
Outerchr7:102633559..102635355hg38UCSC Ensembl
Innerchr7:102274559..102275036hg19UCSC Ensembl
Outerchr7:102274006..102275802hg19UCSC Ensembl
Innerchr7:102061798..102062275hg18UCSC Ensembl
Outerchr7:102061245..102063041hg18UCSC Ensembl
Innerchr7:101868513..101868990hg17UCSC Ensembl
Outerchr7:101867960..101869756hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg381797
hg191797
hg181797
hg171797
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8192
Supporting Variants
SamplesNA18517
Known GenesPOLR2J3
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)nssv19004
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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