A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471237



Internal ID15211110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34426393..34508393hg38UCSC Ensembl
Innerchr15:34718594..34800594hg19UCSC Ensembl
Innerchr15:32505886..32587886hg18UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg3882001
hg1982001
hg1882001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv545707, nssv545714, nssv545716, nssv545715, nssv545708, nssv545711, nssv545713, nssv545717, nssv545712, nssv545720, nssv545718, nssv545706, nssv545709, nssv545719
SamplesHGDP00450, HGDP00463, HGDP00982, HGDP00708, HGDP00469, HGDP01413, HGDP00462, HGDP00461, HGDP00568, HGDP00470, HGDP01089, HGDP00582, HGDP00706, HGDP00449
Known GenesGOLGA8A
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)nsv471237
Frequency
Sample Size443
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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