A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818842



Internal ID16060997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:64577976..64778919hg38UCSC Ensembl
Innerchr11:64345448..64546391hg19UCSC Ensembl
Innerchr11:64102024..64302967hg18UCSC Ensembl
Innerchr11:64102024..64302967hg17UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38200944
hg19200944
hg18200944
hg17200944
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1415686
SamplesNA12248
Known GenesNRXN2, PYGM, RASGRP2, SF1, SLC22A12
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)nsv818842
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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