A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20040



Internal ID15843987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:153781883..153801263hg38UCSC Ensembl
Outerchr7:153781012..153802715hg38UCSC Ensembl
Innerchr7:153478968..153498348hg19UCSC Ensembl
Outerchr7:153478097..153499800hg19UCSC Ensembl
Innerchr7:153109901..153129281hg18UCSC Ensembl
Outerchr7:153109030..153130733hg18UCSC Ensembl
Innerchr7:152916616..152935996hg17UCSC Ensembl
Outerchr7:152915745..152937448hg17UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg3821704
hg1921704
hg1821704
hg1721704
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8237
Supporting Variants
SamplesNA19221
Known Genes
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)nssv20040
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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