A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv463284



Internal ID15523349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:114042968..114081245hg38UCSC Ensembl
Innerchr1:114585590..114623867hg19UCSC Ensembl
Innerchr1:114387113..114425390hg18UCSC Ensembl
Innerchr1:114297632..114335909hg17UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3838278
hg1938278
hg1838278
hg1738278
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv539306
Samples1780862015_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)nsv463284
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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