A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv470623



Internal ID8524164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23391499..23418656hg38UCSC Ensembl
Innerchr14:23860708..23887865hg19UCSC Ensembl
Innerchr14:22930548..22957705hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3827158
hg1927158
hg1827158
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv547546
SamplesHGDP00564
Known GenesMIR208B, MYH6, MYH7
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)nsv470623
Frequency
Sample Size443
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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