A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16499



Internal ID15496438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102497842..102499660hg38UCSC Ensembl
Outerchr7:102497417..102500912hg38UCSC Ensembl
Innerchr7:102138289..102140107hg19UCSC Ensembl
Outerchr7:102137864..102141359hg19UCSC Ensembl
Innerchr7:101925294..101927112hg18UCSC Ensembl
Outerchr7:101924869..101928364hg18UCSC Ensembl
Innerchr7:101732009..101733827hg17UCSC Ensembl
Outerchr7:101731584..101735079hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg383496
hg193496
hg183496
hg173496
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8192
Supporting Variants
SamplesNA19173
Known GenesRASA4B
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)nssv16499
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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