A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv463144



Internal ID15523209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:67760193..67853435hg38UCSC Ensembl
Innerchr6:68470086..68563328hg19UCSC Ensembl
Innerchr6:68526807..68620049hg18UCSC Ensembl
Innerchr6:68526807..68620049hg17UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3893243
hg1993243
hg1893243
hg1793243
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv539172
Samples1780854495_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)nsv463144
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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