A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471320



Internal ID15211193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114284841..114346385hg38UCSC Ensembl
Innerchr9:117047121..117108665hg19UCSC Ensembl
Innerchr9:116086942..116148486hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3861545
hg1961545
hg1861545
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv545899, nssv545901, nssv545897, nssv545896, nssv545890, nssv545892, nssv545893, nssv545900, nssv545895, nssv545894, nssv545888, nssv545889, nssv545902, nssv545891
SamplesHGDP00617, HGDP00578, HGDP00600, HGDP00606, HGDP00561, HGDP00559, HGDP00688, HGDP00582, HGDP00573, HGDP00584, HGDP00604, HGDP00572
Known GenesAKNA, COL27A1, ORM1, ORM2
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)nsv471320
Frequency
Sample Size443
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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