A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543879



Internal ID15165137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:95951695..95978750hg38UCSC Ensembl
Innerchr11:95684859..95711914hg19UCSC Ensembl
Innerchr11:95324507..95351562hg18UCSC Ensembl
Innerchr11:95324507..95351562hg17UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg3827056
hg1927056
hg1827056
hg1727056
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468797
Supporting Variants
SamplesNINDS_152
Known GenesMAML2
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)nssv543879
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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