A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817872



Internal ID16060027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54790359..54815284hg38UCSC Ensembl
Innerchr19:55301811..55326739hg19UCSC Ensembl
Innerchr19:59993623..60018551hg18UCSC Ensembl
Innerchr19:59993623..60018551hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3824926
hg1924929
hg1824929
hg1724929
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416414, nssv1417391, nssv1416984, nssv1416982, nssv1416697, nssv1416316, nssv1416327, nssv1417152, nssv1418524, nssv1416413, nssv1416896, nssv1418238, nssv1418526, nssv1417113, nssv1417331, nssv1416897
SamplesNA19142, NA19137, NA19194, NA18542, NA18949, NA19143, NA18856, NA18609, NA18537, NA19238, NA19119, NA19139, NA19141, NA19193, NA18857, NA19240
Known GenesKIR2DL4, LOC100287534
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)nsv817872
Frequency
Sample Size112
Observed Gain2
Observed Loss14
Observed Complex0
Frequencyn/a


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