A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471182



Internal ID15211055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:1152053..1554022hg38UCSC Ensembl
Innerchr7:1191689..1593658hg19UCSC Ensembl
Innerchr7:1158215..1560184hg18UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38401970
hg19401970
hg18401970
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544854, nssv544865, nssv544887, nssv544832, nssv544843, nssv544876, nssv544821
SamplesHGDP00546, HGDP00789, HGDP00302, HGDP00550, HGDP00328, HGDP01397, HGDP00661
Known GenesINTS1, MAFK, MICALL2, TMEM184A, UNCX, ZFAND2A
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
Comments
ReferenceJakobsson_et_al_2008
Pubmed ID18288195
Accession Number(s)nsv471182
Frequency
Sample Size443
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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