A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462957



Internal ID15176336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:57959642..58444346hg38UCSC Ensembl
Innerchr6:58285920..58770624hg19UCSC Ensembl
Innerchr6:58393879..58878583hg18UCSC Ensembl
Innerchr6:58393879..58878583hg17UCSC Ensembl
Cytoband6p11.1
Allele length
AssemblyAllele length
hg38484705
hg19484705
hg18484705
hg17484705
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv539008
SamplesHGDP00208
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)nsv462957
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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