A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16072



Internal ID15492233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7712750..7934920hg38UCSC Ensembl
Outerchr8:7711892..7935336hg38UCSC Ensembl
Innerchr8:7570272..7792442hg19UCSC Ensembl
Outerchr8:7569414..7792858hg19UCSC Ensembl
Innerchr8:7607682..7829852hg18UCSC Ensembl
Outerchr8:7606824..7830268hg18UCSC Ensembl
Innerchr8:7607682..7829852hg17UCSC Ensembl
Outerchr8:7606824..7830268hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38223445
hg19223445
hg18223445
hg17223445
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA18942
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, FAM90A10P, 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)nssv16072
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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