A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464223



Internal ID15524288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:169633437..169691613hg38UCSC Ensembl
Innerchr6:170033533..170091709hg19UCSC Ensembl
Innerchr6:169775458..169833634hg18UCSC Ensembl
Innerchr6:169851165..169909341hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3858177
hg1958177
hg1858177
hg1758177
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540168
Samples1780862444_A
Known GenesWDR27
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)nsv464223
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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