A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464022



Internal ID15524087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:107676938..107696658hg38UCSC Ensembl
Innerchr6:107998142..108017862hg19UCSC Ensembl
Innerchr6:108104835..108124555hg18UCSC Ensembl
Innerchr6:108104835..108124555hg17UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3819721
hg1919721
hg1819721
hg1719721
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540024
Samples1780862226_A
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)nsv464022
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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