A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19964



Internal ID15487218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7774912..7919755hg38UCSC Ensembl
Outerchr8:7774564..7920086hg38UCSC Ensembl
Innerchr8:7632434..7777277hg19UCSC Ensembl
Outerchr8:7632086..7777608hg19UCSC Ensembl
Innerchr8:7669844..7814687hg18UCSC Ensembl
Outerchr8:7669496..7815018hg18UCSC Ensembl
Innerchr8:7669844..7814687hg17UCSC Ensembl
Outerchr8:7669496..7815018hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38145523
hg19145523
hg18145523
hg17145523
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA18517
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, PRR23D1, PRR23D2, SPAG11A, SPAG11B
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)nssv19964
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer