A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544853



Internal ID15553024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46990727..47697026hg19UCSC Ensembl
Innerchr10:46410733..47167032hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg19706300
hg18756300
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv470934
Supporting Variants
SamplesHGDP00052
Known GenesAGAP9, ANTXRL, ANTXRLP1, ANXA8, BMS1P2, BMS1P6, FAM25C, FAM25G, FAM35DP, GPRIN2, HNRNPA1P33, LINC00842, LOC100996758, NPY4R
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)nssv544853
Frequency
Sample Size443
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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