A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543934



Internal ID15511905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:119693786..119717352hg38UCSC Ensembl
Innerchr11:119564496..119588062hg19UCSC Ensembl
Innerchr11:119069706..119093272hg18UCSC Ensembl
Innerchr11:119069706..119093272hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3823567
hg1923567
hg1823567
hg1723567
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468880
Supporting Variants
SamplesNINDS_166
Known GenesPVRL1
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)nssv543934
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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