A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19463



Internal ID15492765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7376989..7932626hg38UCSC Ensembl
Outerchr8:7376672..7933798hg38UCSC Ensembl
Innerchr8:7234511..7790148hg19UCSC Ensembl
Outerchr8:7234194..7791320hg19UCSC Ensembl
Innerchr8:7221921..7827558hg18UCSC Ensembl
Outerchr8:7221604..7828730hg18UCSC Ensembl
Innerchr8:7221921..7827558hg17UCSC Ensembl
Outerchr8:7221604..7828730hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38557127
hg19557127
hg18607127
hg17607127
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA18972
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705B
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)nssv19463
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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