A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv470140



Internal ID8523681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:38349499..38628854hg38UCSC Ensembl
Innerchr19:38840139..39119494hg19UCSC Ensembl
Innerchr19:43531979..43811334hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38279356
hg19279356
hg18279356
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv546504
SamplesHGDP00599
Known GenesCATSPERG, EIF3K, FAM98C, GGN, MAP4K1, PSMD8, RASGRP4, RYR1, SPRED3
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)nsv470140
Frequency
Sample Size443
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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