A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542859



Internal ID15504555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:1242546..1333474hg38UCSC Ensembl
Innerchr11:1263776..1354704hg19UCSC Ensembl
Innerchr11:1220352..1311280hg18UCSC Ensembl
Innerchr11:1220352..1311280hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3890929
hg1990929
hg1890929
hg1790929
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467637
Supporting Variants
Samples1782681313_A
Known GenesMIR6744, MUC5B, TOLLIP, TOLLIP-AS1
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)nssv542859
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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