A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv470500



Internal ID8524041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:174710921..174756754hg38UCSC Ensembl
Innerchr2:175575649..175621482hg19UCSC Ensembl
Innerchr2:175283895..175329728hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3845834
hg1945834
hg1845834
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv547267
SamplesHGDP00905
Known GenesCHRNA1
MethodSNP array
AnalysisWe used the previously validated default quality control criteria, excluding samples with a log R ratio standard deviation of >0.28, a median B allele frequency of >0.55 or <0.45, or a B allele frequency drift of >0.002 (for more details see Wang et al. 2007). As the PennCNV algorithm is more sensitive and specific to CNVs covering greater numbers of SNPs in the HumanHap550 array, use of a minimum number of SNPs in CNV detection increases the reliability of CNV calls (with a consequent reduction in calls per individual). We set 10 SNPs as the minimum detection threshold in the algorithm.
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceJakobsson_et_al_2008
Pubmed ID18288195
Accession Number(s)nsv470500
Frequency
Sample Size443
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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