A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460804



Internal ID15520869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:103922314..104003499hg38UCSC Ensembl
Innerchr3:103641158..103722343hg19UCSC Ensembl
Innerchr3:105123848..105205033hg18UCSC Ensembl
Innerchr3:105123848..105205033hg17UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg3881186
hg1981186
hg1881186
hg1781186
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537308
Samples1780862001_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)nsv460804
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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