A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv470582



Internal ID15210455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19717164..19760434hg38UCSC Ensembl
Innerchr17:19620477..19663747hg19UCSC Ensembl
Innerchr17:19561069..19604339hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3843271
hg1943271
hg1843271
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv547465, nssv547463, nssv547464
SamplesHGDP00302, HGDP00550, HGDP00657
Known GenesALDH3A1
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)nsv470582
Frequency
Sample Size443
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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