A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv470662



Internal ID8524203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:94296542..94798793hg38UCSC Ensembl
Innerchr14:94762879..95265130hg19UCSC Ensembl
Innerchr14:93832632..94334883hg18UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg38502252
hg19502252
hg18502252
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv547604, nssv547602, nssv547603
SamplesHGDP00983, HGDP00953
Known GenesGSC, SERPINA1, SERPINA11, SERPINA12, SERPINA13P, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9
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
CommentsSingle-copy duplication
ReferenceJakobsson_et_al_2008
Pubmed ID18288195
Accession Number(s)nsv470662
Frequency
Sample Size443
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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