A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv470322



Internal ID15210195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:124313867..124452057hg38UCSC Ensembl
Innerchr12:124798413..124936603hg19UCSC Ensembl
Innerchr12:123364366..123502556hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38138191
hg19138191
hg18138191
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv546988, nssv546986, nssv546989, nssv546990
SamplesHGDP00302, HGDP00960, HGDP01412, HGDP00661
Known GenesFAM101A, MIR6880, NCOR2, ZNF664-FAM101A
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)nsv470322
Frequency
Sample Size443
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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