A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18990



Internal ID15844204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75161983..75166593hg38UCSC Ensembl
Outerchr7:75161095..75166918hg38UCSC Ensembl
Innerchr7:74577788..74582398hg19UCSC Ensembl
Outerchr7:74576900..74582723hg19UCSC Ensembl
Innerchr7:74215724..74220334hg18UCSC Ensembl
Outerchr7:74214836..74220659hg18UCSC Ensembl
Innerchr7:74022439..74027049hg17UCSC Ensembl
Outerchr7:74021551..74027374hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg385824
hg195824
hg185824
hg175824
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8148
Supporting Variants
SamplesNA19221
Known GenesNCF1C
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)nssv18990
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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