A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417518



Internal ID16058743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:201667596..201698734hg38UCSC Ensembl
Innerchr1:201636724..201667862hg19UCSC Ensembl
Innerchr1:199903347..199934485hg18UCSC Ensembl
Innerchr1:198368381..198399519hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3831139
hg1931139
hg1831139
hg1731139
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818766
Supporting Variants
SamplesNA18968
Known GenesIPO9-AS1, NAV1
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)nssv1417518
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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