A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv549901



Internal ID15559744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54705633..54880532hg38UCSC Ensembl
Innerchr19:55217410..55391988hg19UCSC Ensembl
Innerchr19:59909222..60083800hg18UCSC Ensembl
Innerchr19:59909222..60083800hg16UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38174900
hg19174579
hg18174579
hg16174579
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv471706
Supporting Variants
SamplesNA11776
Known GenesFCAR, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, LILRP2, LOC100287534
MethodBAC aCGH
AnalysisArray image analysis and normalization were performed using UCSF Spot and Sproc software (Jain et al. 2002). BACs for which only one of the triplicates printed on the array yielded data, or for which the standard deviation of log2 ratio for the triplicates was 10.2, were removed from final analysis. Furthermore, we discarded BACs that failed to yield data in <20% of cases. For each hybridization experiment, we established a threshold log2 ratio of 2 SDs from the mean of all autosomal clones, and BACs that exceeded this threshold in both independent dye-swap experiments were classified as variant.
PlatformGPL4010
Comments
ReferenceSharp_et_al_2005
Pubmed ID15918152
Accession Number(s)nssv549901
Frequency
Sample Size48
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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