A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1673329



Internal ID15184151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7393671..7496999hg38UCSC Ensembl
Innerchr8:7251193..7354521hg19UCSC Ensembl
Innerchr8:7238603..7341931hg18UCSC Ensembl
Innerchr8:7238603..7341931hg16UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38103329
hg19103329
hg18103329
hg16103329
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469521
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, SPAG11B
MethodBAC aCGH
AnalysisA locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments.
PlatformGPL4010
Comments
ReferenceLocke_et_al_2006
Pubmed ID16826518
Accession Number(s)nssv1673329
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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