A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16559



Internal ID15496424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102568049..102570415hg38UCSC Ensembl
Outerchr7:102563580..102572147hg38UCSC Ensembl
Innerchr7:102208071..102210862hg19UCSC Ensembl
Outerchr7:102204027..102212594hg19UCSC Ensembl
Innerchr7:101995177..101997967hg18UCSC Ensembl
Outerchr7:101991125..101999699hg18UCSC Ensembl
Innerchr7:101801892..101804682hg17UCSC Ensembl
Outerchr7:101797840..101806414hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg388568
hg198568
hg188575
hg178575
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8192
Supporting Variants
SamplesNA19173
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)nssv16559
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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