A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462956



Internal ID15176335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:57946345..58031416hg38UCSC Ensembl
Innerchr6:58272623..58357694hg19UCSC Ensembl
Innerchr6:58380582..58465653hg18UCSC Ensembl
Innerchr6:58380582..58465653hg17UCSC Ensembl
Cytoband6p11.1
Allele length
AssemblyAllele length
hg3885072
hg1985072
hg1885072
hg1785072
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv539007
SamplesHGDP00939
Known GenesGUSBP4
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)nsv462956
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