A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544832



Internal ID15206669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:1152053..1185274hg38UCSC Ensembl
Innerchr7:1191689..1224910hg19UCSC Ensembl
Innerchr7:1158215..1191436hg18UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3833222
hg1933222
hg1833222
Variant TypeCNV loss
Copy Number1
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv471182
Supporting Variants
SamplesHGDP00328
Known GenesZFAND2A
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)nssv544832
Frequency
Sample Size443
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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