A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542953



Internal ID15509091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:25096205..25153652hg38UCSC Ensembl
Innerchr11:25117751..25175198hg19UCSC Ensembl
Innerchr11:25074327..25131774hg18UCSC Ensembl
Innerchr11:25074327..25131774hg17UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg3857448
hg1957448
hg1857448
hg1757448
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467762
Supporting Variants
SamplesHGDP00941
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)nssv542953
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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