A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv463147



Internal ID15523212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:68475768..68532128hg38UCSC Ensembl
Innerchr6:69185660..69242020hg19UCSC Ensembl
Innerchr6:69242381..69298741hg18UCSC Ensembl
Innerchr6:69242381..69298741hg17UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3856361
hg1956361
hg1856361
hg1756361
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv539175
Samples1780862076_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)nsv463147
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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