A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543935



Internal ID15502528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:120576121..120680391hg38UCSC Ensembl
Innerchr11:120446830..120551100hg19UCSC Ensembl
Innerchr11:119952040..120056310hg18UCSC Ensembl
Innerchr11:119952040..120056310hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38104271
hg19104271
hg18104271
hg17104271
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468881
Supporting Variants
Samples1780854441_A
Known GenesGRIK4
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)nssv543935
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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