A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543674



Internal ID15156144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55615681..55650706hg38UCSC Ensembl
Innerchr11:55383157..55418182hg19UCSC Ensembl
Innerchr11:55139733..55174758hg18UCSC Ensembl
Innerchr11:55139733..55174758hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3835026
hg1935026
hg1835026
hg1735026
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468556
Supporting Variants
Samples1780854557_A
Known GenesOR4P4
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)nssv543674
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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