A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19034



Internal ID15487814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102645552..102649579hg38UCSC Ensembl
Outerchr7:102643713..102649942hg38UCSC Ensembl
Innerchr7:102285999..102290026hg19UCSC Ensembl
Outerchr7:102284160..102290389hg19UCSC Ensembl
Innerchr7:102073235..102077262hg18UCSC Ensembl
Outerchr7:102071396..102077625hg18UCSC Ensembl
Innerchr7:101879950..101883977hg17UCSC Ensembl
Outerchr7:101878111..101884340hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg386230
hg196230
hg186230
hg176230
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8192
Supporting Variants
SamplesNA18517
Known GenesPOLR2J2, POLR2J3
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)nssv19034
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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