A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18824



Internal ID15487769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102497842..102511697hg38UCSC Ensembl
Outerchr7:102497417..102512968hg38UCSC Ensembl
Innerchr7:102138289..102152144hg19UCSC Ensembl
Outerchr7:102137864..102153415hg19UCSC Ensembl
Innerchr7:101925294..101939149hg18UCSC Ensembl
Outerchr7:101924869..101940420hg18UCSC Ensembl
Innerchr7:101732009..101745864hg17UCSC Ensembl
Outerchr7:101731584..101747135hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3815552
hg1915552
hg1815552
hg1715552
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8192
Supporting Variants
SamplesNA18517
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)nssv18824
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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