A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543946



Internal ID15156721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:130217050..130289980hg38UCSC Ensembl
Innerchr11:130086945..130159875hg19UCSC Ensembl
Innerchr11:129592155..129665085hg18UCSC Ensembl
Innerchr11:129592155..129665085hg17UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3872931
hg1972931
hg1872931
hg1772931
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468896
Supporting Variants
Samples1780862229_A
Known GenesZBTB44
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)nssv543946
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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