A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471067



Internal ID15210940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:997728..1220162hg38UCSC Ensembl
Innerchr16:1047728..1270162hg19UCSC Ensembl
Innerchr16:987729..1210163hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38222435
hg19222435
hg18222435
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv545236, nssv545235, nssv545234, nssv545233
SamplesHGDP00076, HGDP00937, HGDP00462, HGDP01218
Known GenesC1QTNF8, CACNA1H, SSTR5, SSTR5-AS1
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)nsv471067
Frequency
Sample Size443
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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