A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19153



Internal ID15486541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7712750..7846322hg38UCSC Ensembl
Outerchr8:7711892..7846906hg38UCSC Ensembl
Innerchr8:7570272..7703844hg19UCSC Ensembl
Outerchr8:7569414..7704428hg19UCSC Ensembl
Innerchr8:7607682..7741254hg18UCSC Ensembl
Outerchr8:7606824..7741838hg18UCSC Ensembl
Innerchr8:7607682..7741254hg17UCSC Ensembl
Outerchr8:7606824..7741838hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38135015
hg19135015
hg18135015
hg17135015
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA18504
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, FAM90A10P, PRR23D1, PRR23D2
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)nssv19153
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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