A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417709



Internal ID16058910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:48573492..48694054hg38UCSC Ensembl
Innerchr3:48610925..48731487hg19UCSC Ensembl
Innerchr3:48585929..48706491hg18UCSC Ensembl
Innerchr3:48585929..48706491hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38120563
hg19120563
hg18120563
hg17120563
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818138
Supporting Variants
SamplesNA18999
Known GenesCELSR3, COL7A1, IP6K2, MIR4793, MIR6824, MIR711, NCKIPSD, SLC26A6, TMEM89, UQCRC1
MethodSNP array
AnalysisAn integrated HMM algorithm was developed and we constructed accurate models for log R Ratio and B Allele Frequency. We developed more realistic models for state transition between different copy number states. PennCNV incorporates the population allele frequency for each SNP and the distance between adjacent SNPs. We incorporated a Bayesian approach into PennCNV to use family information for a posteriori CNV validation and CNV boundary mapping.
PlatformGPL6433
Comments
ReferenceWang_et_al_2007
Pubmed ID17921354
Accession Number(s)nssv1417709
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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