A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471189



Internal ID15211062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25254438..25598046hg38UCSC Ensembl
Innerchr22:25650405..25994013hg19UCSC Ensembl
Innerchr22:23980405..24324013hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38343609
hg19343609
hg18343609
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv545541, nssv545540, nssv545533, nssv545529, nssv545524, nssv545517, nssv545525, nssv545519, nssv545526, nssv545542, nssv545518, nssv545520, nssv545535, nssv545522, nssv545539, nssv545536, nssv545534, nssv545523, nssv545516, nssv545531, nssv545537, nssv545538, nssv545527, nssv545530, nssv545528
SamplesHGDP00880, HGDP00313, HGDP01259, HGDP01257, HGDP00330, HGDP01029, HGDP01255, HGDP01387, HGDP01201, HGDP00595, HGDP00315, HGDP00580, HGDP01091, HGDP00698, HGDP00938, HGDP01229, HGDP01270, HGDP00453, HGDP00960, HGDP00681, HGDP01200
Known GenesADRBK2, CRYBB2P1, IGLL3P, LRP5L, MIR6817
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
CommentsDouble-copy duplication
ReferenceJakobsson_et_al_2008
Pubmed ID18288195
Accession Number(s)nsv471189
Frequency
Sample Size443
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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