A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467756



Internal ID15527821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:24757415..24771614hg38UCSC Ensembl
Innerchr11:24778961..24793160hg19UCSC Ensembl
Innerchr11:24735537..24749736hg18UCSC Ensembl
Innerchr11:24735537..24749736hg17UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg3814200
hg1914200
hg1814200
hg1714200
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542948
SamplesHGDP00946
Known GenesLUZP2
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)nsv467756
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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