A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462869



Internal ID15176248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31496186..31513328hg38UCSC Ensembl
Innerchr6:31463963..31481105hg19UCSC Ensembl
Innerchr6:31571942..31589084hg18UCSC Ensembl
Innerchr6:31571942..31589084hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3817143
hg1917143
hg1817143
hg1717143
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538944
SamplesNINDS_266
Known GenesMICB
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)nsv462869
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