A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462667



Internal ID15176046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:28865448..28926150hg38UCSC Ensembl
Innerchr6:28833225..28893927hg19UCSC Ensembl
Innerchr6:28941204..29001906hg18UCSC Ensembl
Innerchr6:28941204..29001906hg17UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3860703
hg1960703
hg1860703
hg1760703
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538766
SamplesNINDS_178
Known GenesHCG14, TRIM27
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)nsv462667
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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