A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471149



Internal ID15211022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197183211..197621219hg38UCSC Ensembl
Innerchr3:196910082..197348090hg19UCSC Ensembl
Innerchr3:198394479..198832487hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38438009
hg19438009
hg18438009
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544699, nssv544710, nssv544721, nssv544732
SamplesHGDP00574, HGDP00789, HGDP00662, HGDP00572
Known GenesBDH1, DLG1, DLG1-AS1, LOC220729, MIR4797
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)nsv471149
Frequency
Sample Size443
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer