A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461539



Internal ID15521604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54118605..54132602hg38UCSC Ensembl
Innerchr1:54584278..54598275hg19UCSC Ensembl
Innerchr1:54356866..54370863hg18UCSC Ensembl
Innerchr1:54296299..54310296hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3813998
hg1913998
hg1813998
hg1713998
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537919
Samples1780862412_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)nsv461539
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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