A curated catalogue of human genomic structural variation

Variant Details

Variant: nssv545252

Internal ID15206624
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:2171156..2317508hg38UCSC Ensembl
Innerchr16:2221157..2367509hg19UCSC Ensembl
Innerchr16:2161158..2307510hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number1
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv471072
Supporting Variants
Known GenesABCA3, BRICD5, CASKIN1, DNASE1L2, E4F1, ECI1, MIR3677, MIR4717, MIR940, MLST8, PGP, RNPS1, TRAF7
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
Pubmed ID18288195
Accession Number(s)nssv545252
Sample Size443
Observed Gain0
Observed Loss1
Observed Complex0

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