A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv463997



Internal ID15524062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:102331460..102372084hg38UCSC Ensembl
Innerchr6:102779335..102819959hg19UCSC Ensembl
Innerchr6:102886028..102926652hg18UCSC Ensembl
Innerchr6:102886028..102926652hg17UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg3840625
hg1940625
hg1840625
hg1740625
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540000
SamplesHGDP00798
Known Genes
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)nsv463997
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