A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467742



Internal ID15527807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:23761792..23819629hg38UCSC Ensembl
Innerchr11:23783338..23841175hg19UCSC Ensembl
Innerchr11:23739914..23797751hg18UCSC Ensembl
Innerchr11:23739914..23797751hg17UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg3857838
hg1957838
hg1857838
hg1757838
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv135n27
Supporting Variantsnssv542940
Samples1780854341_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)nsv467742
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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