A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467635



Internal ID8494682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:557342..656845hg38UCSC Ensembl
Innerchr11:557342..656845hg19UCSC Ensembl
Innerchr11:547342..646845hg18UCSC Ensembl
Innerchr11:547342..646845hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3899504
hg1999504
hg1899504
hg1799504
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542858
SamplesHGDP00445
Known GenesC11orf35, CDHR5, DEAF1, DRD4, IRF7, LOC143666, MIR210, MIR210HG, PHRF1, RASSF7, SCT
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)nsv467635
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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