A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542875



Internal ID15505351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:3546814..3639684hg38UCSC Ensembl
Innerchr11:3568044..3660914hg19UCSC Ensembl
Innerchr11:3524620..3617490hg18UCSC Ensembl
Innerchr11:3524620..3617490hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3892871
hg1992871
hg1892871
hg1792871
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467660
Supporting Variants
SamplesHGDP00108
Known GenesART5, TRPC2
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)nssv542875
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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