A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471224



Internal ID8524765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50435189..50580482hg38UCSC Ensembl
Innerchr22:50873618..51018911hg19UCSC Ensembl
Innerchr22:49220484..49365777hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38145294
hg19145294
hg18145294
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv545602, nssv545603
SamplesHGDP00825, HGDP00978
Known GenesADM2, CHKB, CHKB-CPT1B, CPT1B, KLHDC7B, LMF2, MIOX, NCAPH2, ODF3B, PPP6R2, SBF1, SCO2, SYCE3, TYMP
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)nsv471224
Frequency
Sample Size443
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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