A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469136



Internal ID15529201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19316144..19397902hg38UCSC Ensembl
Innerchr12:19469078..19550836hg19UCSC Ensembl
Innerchr12:19360345..19442103hg18UCSC Ensembl
Innerchr12:19360345..19442103hg17UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3881759
hg1981759
hg1881759
hg1781759
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv188n27
Supporting Variantsnssv544110
SamplesNINDS_45
Known GenesPLEKHA5
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv469136
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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